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Malnutrition

MedGen UID:
56429
Concept ID:
C0162429
Disease or Syndrome
Synonyms: Malnourishment; Malnourishments; Nutritional Deficiencies; Nutritional Deficiency; Undernutrition
SNOMED CT: Undernutrition (65404009); Undernutrition syndrome (65404009); Nutritional deficiency (70241007); Nutritional deficiency disorder (70241007); Nutritional deficiencies (70241007); Nutritional deficiency (47563007); Nutritional deficiency finding (47563007); Nutritional deficiency state (47563007); Undernourished (248325000); Malnourished (248325000); Underfed (248325000); Malnutrition (2492009); Dietary deficiency (70241007)
 
HPO: HP:0004395

Definition

An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. [from MeSH]

Conditions with this feature

Hereditary fructosuria
MedGen UID:
42105
Concept ID:
C0016751
Disease or Syndrome
Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction/failure to thrive). Untreated HFI typically first manifests when fructose- and sucrose-containing foods are introduced in the course of weaning young infants from breast milk. If large quantities of fructose are ingested, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.
Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Dystrophic epidermolysis bullosa (DEB) comprises two types based on inheritance pattern: Recessive DEB, including severe generalized (RDEB-sev gen; formerly called Hallopeau-Siemens type [RDEB-HS]) and generalized other (RDEB-O; formerly called non-Hallopeau-Siemens type [RDEB-non-HS]). Dominant DEB (DDEB). In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Lysinuric protein intolerance
MedGen UID:
75704
Concept ID:
C0268647
Disease or Syndrome
Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Hypercholesterolemia, hypertriglyceridemia, and acute pancreatitis can also be seen.
Congenital microvillous atrophy
MedGen UID:
137954
Concept ID:
C0341306
Disease or Syndrome
Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.
Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
MedGen UID:
167876
Concept ID:
C0872218
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Visceral myopathy
MedGen UID:
331900
Concept ID:
C1835084
Disease or Syndrome
Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014). Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320). Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629).
Visceral myopathy familial with external ophthalmoplegia
MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another health problem; in these cases, it is called secondary intestinal pseudo-obstruction. The condition can be episodic (acute) or persistent (chronic).
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
MedGen UID:
436369
Concept ID:
C2675184
Disease or Syndrome
Hypoglossia with situs inversus
MedGen UID:
411249
Concept ID:
C2748587
Disease or Syndrome
Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008). Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.
Mitochondrial DNA depletion syndrome 4B, MNGIE type
MedGen UID:
462264
Concept ID:
C3150914
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").

Recent clinical studies

Etiology

Ibrahim MK, Zambruni M, Melby CL, Melby PC
Clin Microbiol Rev 2017 Oct;30(4):919-971. doi: 10.1128/CMR.00119-16. PMID: 28768707Free PMC Article
Ferede A, Lemessa F, Tafa M, Sisay S
Public Health 2017 Nov;152:1-8. Epub 2017 Jul 14 doi: 10.1016/j.puhe.2017.06.011. PMID: 28715656
Pribnow AK, Ortiz R, Báez LF, Mendieta L, Luna-Fineman S
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 27 doi: 10.1002/pbc.26590. PMID: 28449403
Hoong JM, Ferguson M, Hukins C, Collins PF
Clin Nutr 2017 Aug;36(4):1105-1109. Epub 2016 Jul 18 doi: 10.1016/j.clnu.2016.07.008. PMID: 27496063
Nishioka S, Okamoto T, Takayama M, Urushihara M, Watanabe M, Kiriya Y, Shintani K, Nakagomi H, Kageyama N
Clin Nutr 2017 Aug;36(4):1089-1096. Epub 2016 Jul 6 doi: 10.1016/j.clnu.2016.06.028. PMID: 27426415

Diagnosis

Luma HN, Eloumou SAFB, Mboligong FN, Temfack E, Donfack OT, Doualla MS
BMC Res Notes 2017 Jul 3;10(1):238. doi: 10.1186/s13104-017-2592-y. PMID: 28673364Free PMC Article
Alzahrani SH, Alamri SH
BMC Geriatr 2017 Jul 3;17(1):136. doi: 10.1186/s12877-017-0527-z. PMID: 28673255Free PMC Article
Pribnow AK, Ortiz R, Báez LF, Mendieta L, Luna-Fineman S
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 27 doi: 10.1002/pbc.26590. PMID: 28449403
Burks CE, Jones CW, Braz VA, Swor RA, Richmond NL, Hwang KS, Hollowell AG, Weaver MA, Platts-Mills TF
J Am Geriatr Soc 2017 Aug;65(8):1741-1747. Epub 2017 Mar 21 doi: 10.1111/jgs.14862. PMID: 28322438Free PMC Article
Poulia KA, Klek S, Doundoulakis I, Bouras E, Karayiannis D, Baschali A, Passakiotou M, Chourdakis M
Clin Nutr 2017 Aug;36(4):1130-1135. Epub 2016 Aug 12 doi: 10.1016/j.clnu.2016.07.014. PMID: 27546796

Therapy

Gigante A, Rosato E, Barbano B, Di Mario F, Di Lazzaro-Giraldi G, Gasperini ML, Pofi R, Laviano A
J Biol Regul Homeost Agents 2018 Jan-Feb;32(1):163-166. PMID: 29504382
Jelle M, Grijalva-Eternod CS, Haghparast-Bidgoli H, King S, Cox CL, Skordis-Worrall J, Morrison J, Colbourn T, Fottrell E, Seal AJ
BMC Public Health 2017 Jul 6;17(1):632. doi: 10.1186/s12889-017-4550-y. PMID: 28683834Free PMC Article
Burks CE, Jones CW, Braz VA, Swor RA, Richmond NL, Hwang KS, Hollowell AG, Weaver MA, Platts-Mills TF
J Am Geriatr Soc 2017 Aug;65(8):1741-1747. Epub 2017 Mar 21 doi: 10.1111/jgs.14862. PMID: 28322438Free PMC Article
Million M, Diallo A, Raoult D
Microb Pathog 2017 May;106:127-138. Epub 2016 Feb 4 doi: 10.1016/j.micpath.2016.02.003. PMID: 26853753
Zhou J, Zeng L, Dang S, Pei L, Gao W, Li C, Yan H
J Pediatr 2016 Nov;178:40-46.e3. Epub 2016 Jul 21 doi: 10.1016/j.jpeds.2016.06.017. PMID: 27449363

Prognosis

Ferede A, Lemessa F, Tafa M, Sisay S
Public Health 2017 Nov;152:1-8. Epub 2017 Jul 14 doi: 10.1016/j.puhe.2017.06.011. PMID: 28715656
Benzekri NA, Sambou JF, Diaw B, Sall EHI, Sall F, Niang A, Ba S, Guèye NFN, Diallo MB, Hawes SE, Seydi M, Gottlieb GS
AIDS Care 2017 Dec;29(12):1510-1516. Epub 2017 Jun 14 doi: 10.1080/09540121.2017.1338652. PMID: 28612658
Pribnow AK, Ortiz R, Báez LF, Mendieta L, Luna-Fineman S
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 27 doi: 10.1002/pbc.26590. PMID: 28449403
Hoong JM, Ferguson M, Hukins C, Collins PF
Clin Nutr 2017 Aug;36(4):1105-1109. Epub 2016 Jul 18 doi: 10.1016/j.clnu.2016.07.008. PMID: 27496063
Nishioka S, Okamoto T, Takayama M, Urushihara M, Watanabe M, Kiriya Y, Shintani K, Nakagomi H, Kageyama N
Clin Nutr 2017 Aug;36(4):1089-1096. Epub 2016 Jul 6 doi: 10.1016/j.clnu.2016.06.028. PMID: 27426415

Clinical prediction guides

Ferede A, Lemessa F, Tafa M, Sisay S
Public Health 2017 Nov;152:1-8. Epub 2017 Jul 14 doi: 10.1016/j.puhe.2017.06.011. PMID: 28715656
Benzekri NA, Sambou JF, Diaw B, Sall EHI, Sall F, Niang A, Ba S, Guèye NFN, Diallo MB, Hawes SE, Seydi M, Gottlieb GS
AIDS Care 2017 Dec;29(12):1510-1516. Epub 2017 Jun 14 doi: 10.1080/09540121.2017.1338652. PMID: 28612658
Burks CE, Jones CW, Braz VA, Swor RA, Richmond NL, Hwang KS, Hollowell AG, Weaver MA, Platts-Mills TF
J Am Geriatr Soc 2017 Aug;65(8):1741-1747. Epub 2017 Mar 21 doi: 10.1111/jgs.14862. PMID: 28322438Free PMC Article
Hoong JM, Ferguson M, Hukins C, Collins PF
Clin Nutr 2017 Aug;36(4):1105-1109. Epub 2016 Jul 18 doi: 10.1016/j.clnu.2016.07.008. PMID: 27496063
Nishioka S, Okamoto T, Takayama M, Urushihara M, Watanabe M, Kiriya Y, Shintani K, Nakagomi H, Kageyama N
Clin Nutr 2017 Aug;36(4):1089-1096. Epub 2016 Jul 6 doi: 10.1016/j.clnu.2016.06.028. PMID: 27426415

Recent systematic reviews

Ibrahim MK, Zambruni M, Melby CL, Melby PC
Clin Microbiol Rev 2017 Oct;30(4):919-971. doi: 10.1128/CMR.00119-16. PMID: 28768707Free PMC Article
Correia MITD, Perman MI, Waitzberg DL
Clin Nutr 2017 Aug;36(4):958-967. Epub 2016 Jul 19 doi: 10.1016/j.clnu.2016.06.025. PMID: 27499391
Sealy MJ, Nijholt W, Stuiver MM, van der Berg MM, Roodenburg JL, van der Schans CP, Ottery FD, Jager-Wittenaar H
J Clin Epidemiol 2016 Aug;76:125-36. Epub 2016 Feb 27 doi: 10.1016/j.jclinepi.2016.02.020. PMID: 26931291
Akhtar S
Crit Rev Food Sci Nutr 2016 Oct 25;56(14):2320-30. doi: 10.1080/10408398.2013.832143. PMID: 25830938
Mitchell H, Porter J
J Hum Nutr Diet 2016 Apr;29(2):156-64. Epub 2015 Mar 25 doi: 10.1111/jhn.12308. PMID: 25808187

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