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Metabolic disease

MedGen UID:: 44376
•Concept ID:: C0025517
•: Disease or Syndrome

Synonym:	metabolic disorder
SNOMED CT:	MD - Metabolic disorders (75934005); Metabolic disease (75934005); Metabolic disorder (75934005); Generalized metabolic disorder (30390004)

Monarch Initiative:	MONDO:0005066

Definition

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMetabolic disease

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease or disorder
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Metabolic disease
        5,10-Methylenetetrahydrofolate reductase deficiency
        Abnormal blood ion concentration
        Abnormal blood cation concentration
        Abnormal blood inorganic cation concentration
        Abnormal blood monovalent inorganic cation concentration
        Abnormal blood transition element cation concentration
        Abnormal blood chloride concentration
        Hyperchloremia
        Hypochloremia
        Abnormal blood phosphate concentration
        Elevated plasma pyrophosphate
        Hyperphosphatemia
        Hypophosphatemia
        Abnormality of acid-base homeostasis
        Abnormal base excess
        Abnormal serum anion gap
        Decreased serum anion gap
        Elevated serum anion gap
        Abnormal serum bicarbonate concentration
        Decreased serum bicarbonate concentration
        Elevated serum bicarbonate concentration
        Achlorhydria
        Acidemia
        Dicarboxylic acidemia
        Elevated circulating glutaric acid concentration
        Methylmalonic acidemia
        Phenylpyruvic acidemia
        Propionic acidemia
        Acidosis
        Chronic acidosis
        Hyperchloremic acidosis
        Increased serum lactate
        Ketosis
        Lactic acidosis
        Metabolic acidosis
        Renal tubular acidosis
        Respiratory acidosis
        Alkalemia
        Alkalosis
        Hypochloremic metabolic alkalosis
        Hypokalemic alkalosis
        Metabolic alkalosis
        Respiratory alkalosis
        Elevated lactate:pyruvate ratio
        Bronze diabetes
        Hereditary hemochromatosis
        Hemochromatosis type 1
        Hemochromatosis type 3
        Hemochromatosis type 4
        Hemochromatosis type 5
        HFE-Associated Hereditary Hemochromatosis
        Juvenile hemochromatosis
        Neonatal hemochromatosis
        Secondary hemochromatosis
        Transfusion hemosiderosis
        Carbohydrate metabolism disease
        Carbohydrate transport disease
        Congenital disorder of glycosylation
        ALG1-congenital disorder of glycosylation
        ALG11-congenital disorder of glycosylation
        ALG12-congenital disorder of glycosylation
        ALG2-congenital disorder of glycosylation
        ALG3-congenital disorder of glycosylation
        ALG6-congenital disorder of glycosylation 1C
        ALG8 congenital disorder of glycosylation
        ALG9 congenital disorder of glycosylation
        B4GALT1-congenital disorder of glycosylation
        COG1 congenital disorder of glycosylation
        COG4-congenital disorder of glycosylation
        COG5-congenital disorder of glycosylation
        COG6-ongenital disorder of glycosylation
        COG7 congenital disorder of glycosylation
        COG8-congenital disorder of glycosylation
        Congenital disorder of deglycosylation
        Congenital disorder of glycosylation type 1E
        Congenital muscular dystrophy with intellectual disability and severe epilepsy
        Developmental and epileptic encephalopathy, 36
        DK1-congenital disorder of glycosylation
        DPAGT1-congenital disorder of glycosylation
        DPM3-congenital disorder of glycosylation
        Leukocyte adhesion deficiency type II
        MGAT2-congenital disorder of glycosylation
        MOGS-congenital disorder of glycosylation
        MPDU1-congenital disorder of glycosylation
        MPI-congenital disorder of glycosylation
        PGM1-congenital disorder of glycosylation
        PMM2-congenital disorder of glycosylation
        RFT1-congenital disorder of glycosylation
        SLC35A1-congenital disorder of glycosylation
        SRD5A3-congenital disorder of glycosylation
        Galactose intolerance
        Deficiency of galactokinase
        Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
        Galactosemia 4
        Transferase Deficiency Galactosemia
        UDPglucose-4-epimerase deficiency
        Glucose metabolism disease
        Diabetes mellitus
        Glucose intolerance
        Glycosuria
        Hyperglycemia
        Hyperinsulinemia
        Hypoglycemia
        Prediabetes syndrome
        Glycerol metabolism disease
        Inborn carbohydrate metabolic disorder
        Lactose intolerance
        Mucopolysaccharidosis
        Deficiency of hyaluronoglucosaminidase
        Morquio syndrome
        Mucopolysaccharidosis type 1
        Mucopolysaccharidosis type 6
        Mucopolysaccharidosis type 7
        Mucopolysaccharidosis, MPS-II
        Sanfilippo syndrome
        Phosphoenolpyruvate carboxykinase (GTP) deficiency
        Carnosinemia
        Combined oxidative phosphorylation defect type 8
        Combined oxidative phosphorylation deficiency 33
        Dihydropyrimidine dehydrogenase deficiency
        Fluoropyrimidine response
        Capecitabine response
        Fluorouracil response
        Tegafur response
        disorder of calcium metabolism
        Calcinosis
        Calciphylaxis
        Cerebral calcification
        Chicken Wire Calcification
        CREST syndrome
        Dystrophic calcification
        Extraosseous Calcification
        Microcalcifications of the breast
        Nephrocalcinosis
        Tracheal calcification
        Vascular calcification
        Decalcification, Pathologic
        Hypercalcemia
        Humoral hypercalcemia of malignancy
        Infantile hypercalcemia
        Hypocalcemia
        Tetany
        Pseudohypoparathyroidism
        Pseudohypoparathyroidism type 1B
        Pseudohypoparathyroidism type 1C
        Pseudohypoparathyroidism type I A
        Pseudohypoparathyroidism type II
        Pseudopseudohypoparathyroidism
        Rickets
        Acquired Rickets
        Adult Rickets
        Calcium Deficiency Rickets
        Childhood Rickets
        Chronic kidney disease mineral and bone disorder
        Dent disease
        Familial X-linked hypophosphatemic vitamin D refractory rickets
        Hypocalcemic rickets
        Hypophosphatemic rickets
        Nutritional Rickets
        Vitamin D Dependent Rickets 2
        Vitamin D-dependent rickets
        Vitamin D-dependent rickets type II with alopecia
        Vitamin D-dependent rickets, type 2
        Disturbance of Temperature Regulation
        DNA Repair-Deficiency Disorders
        Ataxia-telangiectasia syndrome
        Bloom syndrome
        Cockayne syndrome
        Cockayne syndrome type 1
        Cockayne syndrome type 2
        Cockayne syndrome type 3
        COFS syndrome
        Fanconi anemia
        Fanconi anemia complementation group A
        Fanconi anemia complementation group B
        Fanconi anemia complementation group C
        Fanconi anemia complementation group D1
        Fanconi anemia complementation group D2
        Fanconi anemia complementation group E
        Fanconi anemia complementation group F
        Fanconi anemia complementation group G
        Fanconi anemia complementation group I
        Fanconi anemia complementation group J
        Fanconi anemia complementation group L
        Fanconi anemia complementation group N
        Fanconi anemia complementation group O
        Fanconi anemia complementation group P
        Fanconi anemia, complementation group M
        Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome
        Hereditary nonpolyposis colorectal neoplasms
        Colorectal cancer, hereditary nonpolyposis, type 2
        Li-Fraumeni syndrome
        Li-Fraumeni syndrome 1
        Li-Fraumeni syndrome 2
        Microcephaly, normal intelligence and immunodeficiency
        Rothmund-Thomson syndrome
        Rothmund-Thomson syndrome type 1
        Rothmund-Thomson syndrome type 2
        Severe combined immunodeficiency disease
        Adenosine deaminase deficiency
        Histiocytic medullary reticulosis
        Leaky Severe Combined Immunodeficiency
        MHC Class II Deficiency
        Purine-nucleoside phosphorylase deficiency
        SCID due to absent class II HLA antigens
        Severe combined immunodeficiency due to DNA-PKcs deficiency
        Severe Combined Immunodeficiency with Absence of T and B Cells
        Severe Combined Immunodeficiency with Absence of T, Normal B Cells
        Severe combined immunodeficiency, athabascan-type
        Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
        Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive
        Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
        T-B+ severe combined immunodeficiency due to JAK3 deficiency
        X-linked severe combined immunodeficiency
        Werner syndrome
        Xeroderma pigmentosum
        ERCC1-Related Xeroderma Pigmentosum
        Xeroderma pigmentosum group A
        Xeroderma pigmentosum group B
        Xeroderma pigmentosum variant type
        Xeroderma pigmentosum, group C
        Xeroderma pigmentosum, group D
        Xeroderma pigmentosum, group E
        Xeroderma pigmentosum, group F
        Xeroderma pigmentosum, group G
        Emaciated
        Cachexia
        Gout
        Gouty arthropathy
        Podagra
        Hepatic methionine adenosyltransferase deficiency
        Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
        High density lipoprotein cholesterol level quantitative trait locus 6
        Hyperlactatemia
        Hyperlipoproteinemia
        Familial hypercholesterolemia
        Homozygous familial hypercholesterolemia
        Hypercholesterolemia, autosomal dominant, 3
        Hypercholesterolemia, autosomal dominant, type B
        Hypercholesterolemia, familial, 1
        Hypercholesterolemia, familial, 4
        Hyperlipidemia, familial combined, LPL related
        Familial type 3 hyperlipoproteinemia
        Familial type 5 hyperlipoproteinemia
        Hyperalphalipoproteinemia
        Hyperlipoproteinemia type IV
        Hyperlipoproteinemia, type I
        Hyperlysinemia
        Hyperpipecolatemia
        Hypoalphalipoproteinemia
        LCAT deficiency
        Fish-eye disease
        Norum disease
        Tangier disease
        Hypophosphatasia
        Adult hypophosphatasia
        Childhood hypophosphatasia
        Infantile hypophosphatasia
        Odontohypophosphatasia
        Perinatal lethal hypophosphatasia
        Prenatal benign hypophosphatasia
        Imbalances, Water-Electrolyte
        Dehydration
        Hypernatremic dehydration
        Hypertonic dehydration
        Hyperkalemia
        Hypernatremia
        Hypokalemia
        Episodic hypokalemia
        Hyponatremia
        Hyponatremia with Hypoosmolality
        Inappropriate antidiuretic hormone secretion
        Water intoxication syndrome
        Inborn errors of metabolism
        2-hydroxyglutaric aciduria
        D,L-2-hydroxyglutaric aciduria
        D-2-hydroxyglutaric aciduria
        L-2-hydroxyglutaric aciduria
        Amino Acid Transport Disorders, Inborn
        Lowe syndrome
        Neutral 1 amino acid transport defect
        Biotinidase deficiency
        Brain Diseases, Metabolic, Inborn
        Adrenoleukodystrophy
        Deficiency of mevalonate kinase
        Disorder of the urea cycle metabolism
        Hereditary Central Nervous System Demyelinating Diseases
        Hereditary hypertyrosinemia
        Homocystinuria
        ITM2B amyloidosis
        Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
        Leigh syndrome
        Lesch-Nyhan syndrome
        Lysosomal Storage Diseases, Nervous System
        Maple syrup urine disease
        Menkes kinky-hair syndrome
        MERRF syndrome
        Non-ketotic hyperglycinemia
        Peroxisome biogenesis disorder 1B
        Phenylketonuria
        Phytanic acid storage disease
        Pyruvate carboxylase deficiency
        Pyruvate dehydrogenase complex deficiency
        Wilson disease
        Zellweger spectrum disorders
        Carbohydrate Metabolism, Inborn Errors
        Fructose Metabolism, Inborn Errors
        Fucosidosis
        G6PD deficiency
        Glycogen storage disease
        Inborn error of pyruvate metabolism
        Mannosidosis
        Mucolipidosis
        Multiple carboxylase deficiency
        Primary hyperoxaluria
        Congenital generalized lipodystrophy
        Congenital generalized lipodystrophy type 1
        Congenital generalized lipodystrophy type 2
        Cytochrome-c oxidase deficiency
        Deficiency of bisphosphoglycerate mutase
        Deficiency of enolase
        Deficiency of hexokinase
        Disorder of amino acid metabolism
        Albinism
        Alkaptonuria
        Arginase deficiency
        Argininosuccinate lyase deficiency
        Beta-Methylcrotonylglycinuria
        Citrullinemia type I
        Deficiency of butyryl-CoA dehydrogenase
        Deficiency of hydroxymethylglutaryl-CoA lyase
        Glutaric aciduria, type 1
        Hyperhomocysteinemia
        Methylcrotonyl-CoA carboxylase deficiency
        Multiple acyl-CoA dehydrogenase deficiency
        Prolidase deficiency
        Tyrosinemia type I
        Disorder of organic acid metabolism
        3-Methylglutaconic aciduria
        Cobalamin C disease
        Deficiency of acetyl-CoA acetyltransferase
        Isovaleryl-CoA dehydrogenase deficiency
        Erythrocyte Adenylate Kinase Deficiency
        Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
        Fructose-biphosphatase deficiency
        Glucose phosphate isomerase deficiency
        Glucose-6-Phosphatase 3 Deficiency
        Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
        Gluthathione synthetase deficiency
        Glutathione synthetase deficiency with 5-oxoprolinuria
        Glutathione synthetase deficiency without 5-oxoprolinuria
        Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
        Hereditary amyloidosis
        Familial amyloid polyneuropathy
        Familial visceral amyloidosis, Ostertag type
        Hereditary cerebral hemorrhage with amyloidosis
        Meretoja syndrome
        Variant ABeta2M amyloidosis
        Hereditary fructosuria
        Hereditary hyperbilirubinemia
        Crigler-Najjar syndrome
        Crigler-Najjar syndrome type 1
        Dubin-Johnson syndrome
        Gilbert syndrome
        Hereditary orotic aciduria
        Hexose-6-phosphate Dehydrogenase Deficiency
        Holocarboxylase synthetase deficiency
        Hutchinson-Gilford syndrome
        Inborn disorder of purine or pyrimidine metabolism
        Inborn metal metabolism disorder
        Familial Hypophosphatemias
        Familial periodic paralysis
        Inherited lipid metabolism disorder
        3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
        Abetalipoproteinaemia
        Disorder of fatty acid metabolism
        Dyslipidemia
        Farber lipogranulomatosis
        Lipid Metabolism, Inborn Errors
        Lipodystrophy
        Lipomatosis
        Mitochondrial trifunctional protein deficiency
        Sphingolipidosis
        Xanthomatosis
        Intermediary Metabolism Disorder
        Lysosomal storage disease
        Acid phosphatase deficiency
        Angiokeratoma corporis diffusum
        Aspartylglucosaminuria
        Cholesteryl ester storage disease
        Combined deficiency of sialidase AND beta galactosidase
        Cystinosis
        Gaucher disease
        GM1 gangliosidosis
        Hereditary spastic paraplegia 48
        Metachromatic leukodystrophy
        Multiple sulfatase deficiency
        Pyknodysostosis
        Sandhoff disease
        Sialuria
        Sphingomyelin/cholesterol lipidosis
        Tay-Sachs disease, variant AB
        Wolman disease
        Neuronal ceroid lipofuscinosis
        Adult neuronal ceroid lipofuscinosis
        Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
        Ceroid lipofuscinosis, neuronal, 6A
        Infantile neuronal ceroid lipofuscinosis
        Juvenile neuronal ceroid lipofuscinosis
        Late-infantile neuronal ceroid lipofuscinosis
        Neuronal ceroid lipofuscinosis 1
        Neuronal ceroid lipofuscinosis 3
        Neuronal ceroid lipofuscinosis 5
        Neuronal ceroid lipofuscinosis 7
        Neuronal ceroid lipofuscinosis 9
        Neuronal ceroid lipofuscinosis 10
        Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
        Neuronal Ceroid Lipofuscinosis Type 4B
        Neuronal ceroid lipofuscinosis, congenital
        Parkinsonism due to ATP13A2 deficiency
        Peroxisomal disorder
        Acatalasia
        CADDS
        Rhizomelic chondrodysplasia punctata
        PIGA Deficiency
        Pyruvate kinase deficiency of red cells
        Renal tubular transport disease
        Bartter syndrome
        Familial hypokalemia-hypomagnesemia
        Familial renal glucosuria
        Fanconi syndrome
        Liddle syndrome
        Pseudohypoaldosteronism
        Renal aminoaciduria
        Steroid inherited metabolic disorder
        Antley-Bixler Syndrome Phenotype
        Apparent mineralocorticoid excess
        Congenital adrenal hyperplasia
        Smith-Lemli-Opitz syndrome
        X-linked ichthyosis with steryl-sulfatase deficiency
        Sucrase-isomaltase deficiency
        Triosephosphate isomerase deficiency
        Uridine monophosphate hydrolase deficiency
        Iron metabolism disease
        Hyperferritinemias
        Iron deficiency
        Iron deficiency anemia
        Iron deficiency without anemia
        Iron Overload
        Hemosiderosis
        Malabsorption syndrome
        Autoimmune enteropathy
        MHC class II deficiency
        Primary autoimmune enteropathy
        Severe combined immunodeficiency due to LCK deficiency
        TCR-alpha-beta-positive T-cell deficiency
        Blind loop syndrome
        Celiac disease
        Celiac disease, susceptibility to, 1
        Celiac disease, susceptibility to, 2
        Celiac disease, susceptibility to, 3
        Celiac disease, susceptibility to, 4
        Celiac disease, susceptibility to, 5
        Celiac disease, susceptibility to, 6
        Celiac disease, susceptibility to, 7
        Celiac disease, susceptibility to, 8
        Celiac disease, susceptibility to, 9
        Celiac disease, susceptibility to, 10
        Celiac disease, susceptibility to, 11
        Celiac disease, susceptibility to, 12
        Celiac disease, susceptibility to, 13
        Collagenous sprue
        Intestinal Disaccharidase Deficiency and Disaccharide Malabsorption
        Short bowel syndrome
        Secondary short bowel syndrome
        Steatorrhea
        Tropical sprue
        Whipple disease
        Metabolic bone disease
        Bone Demineralization, Pathologic
        Bone Paget disease
        Hyperphosphatasemia with bone disease
        Sternal Paget Disease
        Osteomalacia
        Tumor-induced osteomalacia
        Osteoporosis
        Generalized osteoporosis
        Idiopathic juvenile osteoporosis
        Localized osteoporosis
        Nephrolithiasis/osteoporosis, hypophosphatemic
        Postmenopausal osteoporosis
        Pregnancy associated osteoporosis
        X-linked osteoporosis with fractures
        Pseudogout
        Metabolic encephalopathy
        Bilirubin encephalopathy
        Acute bilirubin encephalopathy
        Chronic bilirubin encephalopathy
        Kernicterus due to isoimmunization
        Central pontine myelinolysis
        Hepatic encephalopathy
        Chronic hepatic encephalopathy
        Marchiafava-Bignami disease
        Mitochondrial encephalomyopathy
        Reye syndrome
        Wernicke encephalopathy
        Metabolic syndrome X
        Mitochondrial disease
        Autosomal dominant optic atrophy classic form
        Carbamoyl-phosphate synthetase 1 deficiency
        Complex V deficiency
        Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
        Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
        Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
        Cytochrome-c oxidase deficiency disease
        Friedreich ataxia
        Friedreich ataxia 1
        Friedreich ataxia 2
        Inborn mitochondrial myopathy
        3-Methylglutaconic aciduria type 2
        Adenosine monophosphate deaminase deficiency
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
        Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
        Autosomal dominant mitochondrial myopathy with exercise intolerance
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        Mitochondrial complex I deficiency
        Mitochondrial complex II deficiency, nuclear type 1
        Mitochondrial DNA deletion syndrome with progressive myopathy
        Mitochondrial DNA depletion syndrome 11
        Mitochondrial DNA depletion syndrome, myopathic form
        Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
        Mitochondrial myopathy-lactic acidosis-deafness syndrome
        Mitochondrial neurogastrointestinal encephalomyopathy
        Myopathy, lactic acidosis, and sideroblastic anemia
        Progressive external ophthalmoplegia
        Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
        Leber optic atrophy
        Mitochondrial complex III deficiency nuclear type 1
        Mitochondrial DNA Deletion Syndromes
        Mitochondrial DNA depletion syndrome, encephalomyopathic form
        Mitochondrial DNA depletion syndrome, hepatocerebral form
        Pearson syndrome
        Mitochondrial myopathy with a defect in mitochondrial-protein transport
        Mitochondrial non-syndromic sensorineural hearing loss
        NARP syndrome
        Striatonigral degeneration, infantile, mitochondrial
        Mitochondrial Enzyme Deficiency
        Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
        Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
        Nickel Metabolic Disorder
        Nutritional disorder
        Child Nutrition Disorders
        Disordered Eating
        eating disorder
        Anorexia
        Anorexia nervosa
        Binge eating disorder
        Bulimia nervosa
        Sleep Related Eating Disorder
        Hypervitaminosis A
        Infant Nutrition Disorders
        Vitamin K Deficiency Bleeding
        Iodine deficiency
        Malnutrition
        Deficiency Disease
        Deficiency of macronutrients
        Disorder of fetal nutrition
        Refeeding syndrome
        Severe Acute Malnutrition
        Starvation
        Nutritional deficiency state
        Overnutrition
        Overweight
        Potassium deficiency disease
        Vitamin deficiency
        Low levels of vitamin A
        Low levels of vitamin D
        Scurvy
        Vitamin B deficiency
        Vitamin K deficiency
        Wasting disease
        HIV wasting syndrome
        Phosphorus metabolism disease
        polysyndactyly
        Porphyria
        Acute intermittent porphyria
        Cutaneous porphyria
        Erythropoietic protoporphyria
        Hepatic porphyria
        Hepatoerythropoietic porphyria
        Hereditary coproporphyria
        Porphobilinogen synthase deficiency
        Porphyria cutanea tarda
        Variegate porphyria
        X-linked erythropoietic protoporphyria
        Proteostasis deficiencies
        Amyloidosis
        AA amyloidosis
        AApoAIV amyloidosis
        AH amyloidosis
        AL amyloidosis
        ALECT2 amyloidosis
        Amyloidoma
        Cardiac amyloidosis
        Cerebral amyloid angiopathy
        Conjunctival amyloidosis
        Cutaneous amyloidosis
        Generalized amyloid deposition
        Polyneuropathy due to amyloidosis
        Pulmonary amyloidosis
        Secondary Amyloidosis
        Soft tissue amyloid neoplasm
        Wild type ATTR amyloidosis
        Synucleinopathy
        Lewy body dementia
        Multiple system atrophy
        Parkinson disease
        TDP-43 proteinopathy
        Amyotrophic lateral sclerosis
        Degenerations, Frontotemporal Lobar
        Skin Diseases, Metabolic
        Necrobiosis lipoidica
        Zinc deficiency

Professional guidelines

PubMed

Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening.

Langer A, Holle R, John J
BMC Health Serv Res 2012 Sep 4;12:300. doi: 10.1186/1472-6963-12-300. PMID: 22947299 Free PMC Article

Recent clinical studies

Etiology

Chronic Cardio-Metabolic Disease Increases the Risk of Worse Outcomes Among Hospitalized Patients With COVID-19: A Multicenter, Retrospective, and Real-World Study.

Chen Q, Wang L, Li C, Hu W, Fan Y, Chen Z, Wu L, Lu Z, Ye J, Chen S, Tong J, Ruan L, Mei J, Lu H
J Am Heart Assoc 2021 Jun 15;10(12):e018451. Epub 2021 Jun 5 doi: 10.1161/JAHA.120.018451. PMID: 34096317 Free PMC Article

Expert consensus on management of metabolic disease in Chinese liver transplant recipients.

Shen T, Zhuang L, Sun XD, Qi XS, Wang ZH, Li RD, Chang WX, Yang JY, Yang Y, Zheng SS, Xu X
World J Gastroenterol 2020 Jul 21;26(27):3851-3864. doi: 10.3748/wjg.v26.i27.3851. PMID: 32774062 Free PMC Article

Relationship between thin physique at 6 years and metabolic disease risks in middle-aged Japanese women: The Suita study.

Katsuragi S, Okamura T, Kokubo Y, Watanabe M, Higashiyama A, Ikeda T, Miyamoto Y
J Obstet Gynaecol Res 2020 Mar;46(3):517-526. Epub 2020 Jan 20 doi: 10.1111/jog.14206. PMID: 31960522

Serum biomarkers of inflammation and adiposity in the LABS cohort: associations with metabolic disease and surgical outcomes.

O'Rourke RW, Johnson GS, Purnell JQ, Courcoulas AP, Dakin GF, Garcia L, Hinojosa M, Mitchell JE, Pomp A, Pories WJ, Spaniolas K, Flum DR, Wahed AS, Wolfe BM
Int J Obes (Lond) 2019 Feb;43(2):285-296. Epub 2018 May 17 doi: 10.1038/s41366-018-0088-z. PMID: 29777230 Free PMC Article

Accelerometer-derived physical activity in those with cardio-metabolic disease compared to healthy adults: a UK Biobank study of 52,556 participants.

Cassidy S, Fuller H, Chau J, Catt M, Bauman A, Trenell MI
Acta Diabetol 2018 Sep;55(9):975-979. Epub 2018 May 28 doi: 10.1007/s00592-018-1161-8. PMID: 29808390 Free PMC Article

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Diagnosis

Risk of Glaucoma Associated with Components of Metabolic Disease in Taiwan: A Nationwide Population-Based Study.

Chang YW, Sung FC, Tzeng YL, Mou CH, Tien PT, Su CW, Teng YK
Int J Environ Res Public Health 2021 Dec 28;19(1) doi: 10.3390/ijerph19010305. PMID: 35010564 Free PMC Article

Chronic Cardio-Metabolic Disease Increases the Risk of Worse Outcomes Among Hospitalized Patients With COVID-19: A Multicenter, Retrospective, and Real-World Study.

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group.
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448 Free PMC Article

Discovery of a bacterial peptide as a modulator of GLP-1 and metabolic disease.

Tomaro-Duchesneau C, LeValley SL, Roeth D, Sun L, Horrigan FT, Kalkum M, Hyser JM, Britton RA
Sci Rep 2020 Mar 18;10(1):4922. doi: 10.1038/s41598-020-61112-0. PMID: 32188864 Free PMC Article

Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience

Akduman H, Okulu E, Eminoğlu FT, Kendirli T, Tunç G, Azapağası E, Perk O, Erdeve Ö, Atasay B, Arsan S
Turk J Med Sci 2020 Feb 13;50(1):12-17. doi: 10.3906/sag-1811-8. PMID: 31014046 Free PMC Article

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Therapy

Progress in the Preclinical and Clinical Study of Resveratrol for Vascular Metabolic Disease.

Fan D, Liu C, Zhang Z, Huang K, Wang T, Chen S, Li Z
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Dipeptidyl peptidase IV inhibition delays developmental programming of obesity and metabolic disease in male offspring of obese mothers.

Montaniel KRC, Bucher M, Phillips EA, Li C, Sullivan EL, Kievit P, Rugonyi S, Nathanielsz PW, Maloyan A
J Dev Orig Health Dis 2022 Dec;13(6):727-740. Epub 2022 Jan 24 doi: 10.1017/S2040174422000010. PMID: 35068408 Free PMC Article

Metabolic Disease Incidence After Allogeneic Stem Cell Transplantation: A Nationwide Korean Case-Control Study.

Ha J, Park SH, Park SS, Han S
J Clin Endocrinol Metab 2022 Mar 24;107(4):943-952. doi: 10.1210/clinem/dgab900. PMID: 34905058

Cardiovascular and metabolic disease in the liver transplant recipient.

Kim NG, Sharma A, Saab S
Best Pract Res Clin Gastroenterol 2020 Jun - Aug;46-47:101683. Epub 2020 Sep 12 doi: 10.1016/j.bpg.2020.101683. PMID: 33158470

Expert consensus on management of metabolic disease in Chinese liver transplant recipients.

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Prognosis

The TWEAK/Fn14/CD163 axis-implications for metabolic disease.

Ratajczak W, Atkinson SD, Kelly C
Rev Endocr Metab Disord 2022 Jun;23(3):449-462. Epub 2021 Sep 20 doi: 10.1007/s11154-021-09688-4. PMID: 34542797 Free PMC Article

Risk of Glaucoma Associated with Components of Metabolic Disease in Taiwan: A Nationwide Population-Based Study.

Chang YW, Sung FC, Tzeng YL, Mou CH, Tien PT, Su CW, Teng YK
Int J Environ Res Public Health 2021 Dec 28;19(1) doi: 10.3390/ijerph19010305. PMID: 35010564 Free PMC Article

Chronic Cardio-Metabolic Disease Increases the Risk of Worse Outcomes Among Hospitalized Patients With COVID-19: A Multicenter, Retrospective, and Real-World Study.

Shifted vascular optimization: the emergence of a new arteriolar behaviour with chronic metabolic disease.

Frisbee JC, Halvorson BD, Lewis MT, Wiseman RW
Exp Physiol 2020 Sep;105(9):1431-1439. Epub 2020 Mar 29 doi: 10.1113/EP087871. PMID: 32045062

Serum biomarkers of inflammation and adiposity in the LABS cohort: associations with metabolic disease and surgical outcomes.

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Clinical prediction guides

The TWEAK/Fn14/CD163 axis-implications for metabolic disease.

Ratajczak W, Atkinson SD, Kelly C
Rev Endocr Metab Disord 2022 Jun;23(3):449-462. Epub 2021 Sep 20 doi: 10.1007/s11154-021-09688-4. PMID: 34542797 Free PMC Article

Moderate-to-vigorous intensity physical activity from young adulthood to middle age and metabolic disease: a 30-year population-based cohort study.

Nagata JM, Vittinghoff E, Pettee Gabriel K, Garber AK, Moran AE, Rana JS, Reis JP, Sidney S, Bibbins-Domingo K
Br J Sports Med 2022 Aug;56(15):847-853. Epub 2021 Sep 14 doi: 10.1136/bjsports-2021-104231. PMID: 34521685 Free PMC Article

Gut Microbiome, Intestinal Permeability, and Tissue Bacteria in Metabolic Disease: Perpetrators or Bystanders?

Chakaroun RM, Massier L, Kovacs P
Nutrients 2020 Apr 14;12(4) doi: 10.3390/nu12041082. PMID: 32295104 Free PMC Article

Shifted vascular optimization: the emergence of a new arteriolar behaviour with chronic metabolic disease.

Frisbee JC, Halvorson BD, Lewis MT, Wiseman RW
Exp Physiol 2020 Sep;105(9):1431-1439. Epub 2020 Mar 29 doi: 10.1113/EP087871. PMID: 32045062

Serum biomarkers of inflammation and adiposity in the LABS cohort: associations with metabolic disease and surgical outcomes.

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Recent systematic reviews

How does PTSD treatment affect cardiovascular, diabetes and metabolic disease risk factors and outcomes? A systematic review.

van den Berk Clark C, Kansara V, Fedorova M, Ju T, Renirie T, Lee J, Kao J, Opada ET, Scherrer JF
J Psychosom Res 2022 Jun;157:110793. Epub 2022 Mar 23 doi: 10.1016/j.jpsychores.2022.110793. PMID: 35339907 Free PMC Article

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO
Biochimie 2021 Apr;183:55-62. Epub 2021 Feb 14 doi: 10.1016/j.biochi.2021.02.003. PMID: 33596448

Nonalcoholic fatty liver disease as a metabolic disease in humans: A literature review.

Cariou B, Byrne CD, Loomba R, Sanyal AJ
Diabetes Obes Metab 2021 May;23(5):1069-1083. Epub 2021 Feb 10 doi: 10.1111/dom.14322. PMID: 33464677 Free PMC Article

Gut microbiome responses to dietary intake of grain-based fibers with the potential to modulate markers of metabolic disease: a systematic literature review.

Williams GM, Tapsell LC, O'Brien CL, Tosh SM, Barrett EM, Beck EJ
Nutr Rev 2021 Oct 11;79(11):1274-1292. doi: 10.1093/nutrit/nuaa128. PMID: 33369654

Rehabilitation Interventions to modify endocrine-metabolic disease risk in Individuals with chronic Spinal cord injury living in the Community (RIISC): A systematic review and scoping perspective.

Gibbs JC, Gagnon DH, Bergquist AJ, Arel J, Cervinka T, El-Kotob R, Maltais DB, Wolfe DL, Craven BC
J Spinal Cord Med 2017 Nov;40(6):733-747. Epub 2017 Jul 13 doi: 10.1080/10790268.2017.1350341. PMID: 28703038 Free PMC Article

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