Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 27

1.

Intrinsic factor

A glycoprotein secreted by the cells of the GASTRIC GLANDS that is required for the absorption of VITAMIN B 12 (cyanocobalamin). Deficiency of intrinsic factor leads to VITAMIN B 12 DEFICIENCY and ANEMIA, PERNICIOUS. [from MeSH]

MedGen UID:
7142
Concept ID:
C0021918
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
3.

Megaloblastic anemia due to inborn errors of metabolism

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7; 616271), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MCGA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MCGA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.' [from GTR]

MedGen UID:
224934
Concept ID:
C1306856
Disease or Syndrome
4.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
5.

3-Methylglutaconic aciduria

3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid. [from GTR]

MedGen UID:
90994
Concept ID:
C0342727
Disease or Syndrome
6.

Anemia

A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
7.

Vitamin preparation

A group of organic food substances found in animals and plants in small quantities. They must be supplied in diet or dietary supplement and are essential for normal metabolism. [from NCI]

MedGen UID:
12117
Concept ID:
C0042890
Organic Chemical; Pharmacologic Substance; Vitamin
8.

Megaloblastic anemia

A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS. [from MeSH]

MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
9.

Calcium

A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [from MeSH]

MedGen UID:
710
Concept ID:
C0006675
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
10.

Malabsorption

Impaired ability to absorb one or more nutrients from the intestine. [from HPO]

MedGen UID:
811453
Concept ID:
C3714745
Finding
11.

Resonance

MedGen UID:
534094
Concept ID:
C0231881
Finding
12.

Ligand Binding

Ligand Binding is the tight and specific (high affinity) interaction between a small molecule (typically) and a macromolecule (usually protein) that ordinarily results in modification of its function, e.g., antigen-antibody binding, hormone- or neurotransmitter-receptor binding. [from NCI]

MedGen UID:
309303
Concept ID:
C1517880
Molecular Function
13.

Proteolytic Processing

Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability. [from NCI]

MedGen UID:
271417
Concept ID:
C1514570
Molecular Function
14.

Short arm

MedGen UID:
98429
Concept ID:
C0426857
Finding
15.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
16.

Malabsorption syndrome

A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. [from NCI]

MedGen UID:
44256
Concept ID:
C0024523
Disease or Syndrome
17.

Cyanocobalamin preparation

A cobalt-containing coordination compound generated by intestinal microbes, and a natural water-soluble vitamin of the B-complex family that must combine with Intrinsic Factor for absorption by the intestine. Cyanocobalamin is necessary for hematopoiesis, neural metabolism, DNA and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions. [from NCI]

MedGen UID:
12112
Concept ID:
C0042845
Organic Chemical; Pharmacologic Substance; Vitamin
18.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
19.

Eritron

MedGen UID:
196088
Concept ID:
C0701064
Organic Chemical; Pharmacologic Substance; Vitamin
20.

Protease preparation

A class of enzymes that catalyze the hydrolysis of peptide bonds in the interior of a polypeptide chain or protein molecule. [from NCI]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center