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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); Undernourished (248325000); Malnourished (248325000); Underfed (248325000); Malnutrition (2492009)
 
HPO: HP:0004395

Definition

A deficiency in the intake of energy and nutrients. [from HPO]

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). While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. If the infant ingests large quantities of fructose, 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) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions 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, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. 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, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. 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
Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (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. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Chylomicron retention disease
MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.
Oculogastrointestinal muscular dystrophy
MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.
Pancreatic insufficiency-anemia-hyperostosis syndrome
MedGen UID:
436369
Concept ID:
C2675184
Disease or Syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.
Isolated congenital hypoglossia/aglossia
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
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+").
Mitochondrial DNA depletion syndrome 1
MedGen UID:
1631838
Concept ID:
C4551995
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 1
MedGen UID:
1785391
Concept ID:
C5542197
Disease or Syndrome
ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).
Neurodevelopmental disorder with epilepsy and brain atrophy
MedGen UID:
1823957
Concept ID:
C5774184
Disease or Syndrome
Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021).
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).
Congenital disorder of glycosylation, type IIy
MedGen UID:
1824067
Concept ID:
C5774294
Disease or Syndrome
Congenital disorder of glycosylation type IIy (CDG2Y) is an autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. Laboratory studies show a subtle type II glycosylation defect of serum transferrin (Tambe et al., 2020). For a general discussion of CDGs, see CDG1A (212065).

Professional guidelines

PubMed

Cederholm T, Jensen GL, Correia MITD, Gonzalez MC, Fukushima R, Higashiguchi T, Baptista G, Barazzoni R, Blaauw R, Coats A, Crivelli A, Evans DC, Gramlich L, Fuchs-Tarlovsky V, Keller H, Llido L, Malone A, Mogensen KM, Morley JE, Muscaritoli M, Nyulasi I, Pirlich M, Pisprasert V, de van der Schueren MAE, Siltharm S, Singer P, Tappenden K, Velasco N, Waitzberg D, Yamwong P, Yu J, Van Gossum A, Compher C; GLIM Core Leadership Committee; GLIM Working Group
Clin Nutr 2019 Feb;38(1):1-9. Epub 2018 Sep 3 doi: 10.1016/j.clnu.2018.08.002. PMID: 30181091
Cederholm T, Bosaeus I, Barazzoni R, Bauer J, Van Gossum A, Klek S, Muscaritoli M, Nyulasi I, Ockenga J, Schneider SM, de van der Schueren MA, Singer P
Clin Nutr 2015 Jun;34(3):335-40. Epub 2015 Mar 9 doi: 10.1016/j.clnu.2015.03.001. PMID: 25799486
White JV, Guenter P, Jensen G, Malone A, Schofield M; Academy Malnutrition Work Group; A.S.P.E.N. Malnutrition Task Force; A.S.P.E.N. Board of Directors
JPEN J Parenter Enteral Nutr 2012 May;36(3):275-83. doi: 10.1177/0148607112440285. PMID: 22535923

Recent clinical studies

Etiology

Dent E, Wright ORL, Woo J, Hoogendijk EO
Lancet 2023 Mar 18;401(10380):951-966. Epub 2023 Jan 27 doi: 10.1016/S0140-6736(22)02612-5. PMID: 36716756
Serón-Arbeloa C, Labarta-Monzón L, Puzo-Foncillas J, Mallor-Bonet T, Lafita-López A, Bueno-Vidales N, Montoro-Huguet M
Nutrients 2022 Jun 9;14(12) doi: 10.3390/nu14122392. PMID: 35745121Free PMC Article
Bellanti F, Lo Buglio A, Quiete S, Vendemiale G
Nutrients 2022 Feb 21;14(4) doi: 10.3390/nu14040910. PMID: 35215559Free PMC Article
Ghaly P, Iliopoulos J, Ahmad M
Br J Nurs 2021 Mar 11;30(5):S38-S42. doi: 10.12968/bjon.2021.30.5.S38. PMID: 33733851
Bhutta ZA, Berkley JA, Bandsma RHJ, Kerac M, Trehan I, Briend A
Nat Rev Dis Primers 2017 Sep 21;3:17067. doi: 10.1038/nrdp.2017.67. PMID: 28933421Free PMC Article

Diagnosis

Dent E, Wright ORL, Woo J, Hoogendijk EO
Lancet 2023 Mar 18;401(10380):951-966. Epub 2023 Jan 27 doi: 10.1016/S0140-6736(22)02612-5. PMID: 36716756
Serón-Arbeloa C, Labarta-Monzón L, Puzo-Foncillas J, Mallor-Bonet T, Lafita-López A, Bueno-Vidales N, Montoro-Huguet M
Nutrients 2022 Jun 9;14(12) doi: 10.3390/nu14122392. PMID: 35745121Free PMC Article
Bellanti F, Lo Buglio A, Quiete S, Vendemiale G
Nutrients 2022 Feb 21;14(4) doi: 10.3390/nu14040910. PMID: 35215559Free PMC Article
Malone A, Mogensen KM
Nutr Clin Pract 2022 Feb;37(1):23-34. Epub 2021 Dec 22 doi: 10.1002/ncp.10810. PMID: 34936131
Bhutta ZA, Berkley JA, Bandsma RHJ, Kerac M, Trehan I, Briend A
Nat Rev Dis Primers 2017 Sep 21;3:17067. doi: 10.1038/nrdp.2017.67. PMID: 28933421Free PMC Article

Therapy

Han R, Bian Q, Chen H
Brain Behav 2022 Feb;12(2):e2498. Epub 2022 Jan 12 doi: 10.1002/brb3.2498. PMID: 35020271Free PMC Article
Davies N, Barrado-Martín Y, Vickerstaff V, Rait G, Fukui A, Candy B, Smith CH, Manthorpe J, Moore KJ, Sampson EL
Cochrane Database Syst Rev 2021 Aug 13;8(8):CD013503. doi: 10.1002/14651858.CD013503.pub2. PMID: 34387363Free PMC Article
Zha Y, Qian Q
Nutrients 2017 Feb 27;9(3) doi: 10.3390/nu9030208. PMID: 28264439Free PMC Article
Arends J, Bachmann P, Baracos V, Barthelemy N, Bertz H, Bozzetti F, Fearon K, Hütterer E, Isenring E, Kaasa S, Krznaric Z, Laird B, Larsson M, Laviano A, Mühlebach S, Muscaritoli M, Oldervoll L, Ravasco P, Solheim T, Strasser F, de van der Schueren M, Preiser JC
Clin Nutr 2017 Feb;36(1):11-48. Epub 2016 Aug 6 doi: 10.1016/j.clnu.2016.07.015. PMID: 27637832
Kondrup J, Rasmussen HH, Hamberg O, Stanga Z; Ad Hoc ESPEN Working Group
Clin Nutr 2003 Jun;22(3):321-36. doi: 10.1016/s0261-5614(02)00214-5. PMID: 12765673

Prognosis

Djoumessi YF
Nutrition 2022 Nov-Dec;103-104:111760. Epub 2022 Jun 2 doi: 10.1016/j.nut.2022.111760. PMID: 35843043
GBD Diarrhoeal Diseases Collaborators
Lancet Infect Dis 2017 Sep;17(9):909-948. Epub 2017 Jun 1 doi: 10.1016/S1473-3099(17)30276-1. PMID: 28579426Free PMC Article
The Lancet
Lancet 2017 Feb 18;389(10070):672. Epub 2017 Feb 17 doi: 10.1016/S0140-6736(17)30390-2. PMID: 28229862
Lew CCH, Yandell R, Fraser RJL, Chua AP, Chong MFF, Miller M
JPEN J Parenter Enteral Nutr 2017 Jul;41(5):744-758. Epub 2016 Feb 2 doi: 10.1177/0148607115625638. PMID: 26838530
Kane RL, Shamliyan T, Talley K, Pacala J
J Am Geriatr Soc 2012 May;60(5):896-904. Epub 2012 May 9 doi: 10.1111/j.1532-5415.2012.03942.x. PMID: 22568483

Clinical prediction guides

De Groot LM, Lee G, Ackerie A, van der Meij BS
Nutrients 2020 Jul 30;12(8) doi: 10.3390/nu12082287. PMID: 32751724Free PMC Article
Rosen E, Bakshi N, Watters A, Rosen HR, Mehler PS
Dig Dis Sci 2017 Nov;62(11):2977-2981. Epub 2017 Sep 20 doi: 10.1007/s10620-017-4766-9. PMID: 28932925
Zhang Z, Pereira SL, Luo M, Matheson EM
Nutrients 2017 Aug 3;9(8) doi: 10.3390/nu9080829. PMID: 28771192Free PMC Article
Ojo O, Brooke J
Nutrients 2016 Dec 20;8(12) doi: 10.3390/nu8120827. PMID: 27999383Free PMC Article
Lindkvist B
World J Gastroenterol 2013 Nov 14;19(42):7258-66. doi: 10.3748/wjg.v19.i42.7258. PMID: 24259956Free PMC Article

Recent systematic reviews

Xu Q, Ou X, Li J
Front Public Health 2022;10:902599. Epub 2022 Oct 17 doi: 10.3389/fpubh.2022.902599. PMID: 36324472Free PMC Article
Cass AR, Charlton KE
J Hum Nutr Diet 2022 Dec;35(6):1043-1058. Epub 2022 Apr 26 doi: 10.1111/jhn.13009. PMID: 35377487Free PMC Article
Katoch OR
Nutrition 2022 Apr;96:111565. Epub 2021 Dec 11 doi: 10.1016/j.nut.2021.111565. PMID: 35066367
Keogh E, Mark Williams E
Respir Med 2021 Jan;176:106248. Epub 2020 Nov 21 doi: 10.1016/j.rmed.2020.106248. PMID: 33253970
Bianchi VE, Herrera PF, Laura R
Nutr Neurosci 2021 Oct;24(10):810-834. Epub 2019 Nov 4 doi: 10.1080/1028415X.2019.1681088. PMID: 31684843

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