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Poor appetite

MedGen UID:
68562
Concept ID:
C0232462
Sign or Symptom
Synonym: Decreased appetite
SNOMED CT: Decrease in appetite (64379006); Reduced appetite (64379006); Poor appetite (64379006)
 
HPO: HP:0004396

Definition

A reduced desire to eat. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPoor appetite

Conditions with this feature

Diaphyseal dysplasia
MedGen UID:
4268
Concept ID:
C0011989
Finding
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Hereditary acrodermatitis enteropathica
MedGen UID:
66355
Concept ID:
C0221036
Disease or Syndrome
Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen.
Propionic acidemia
MedGen UID:
75694
Concept ID:
C0268579
Disease or Syndrome
The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. Isolated cardiomyopathy can be observed on rare occasion in the absence of clinical metabolic decompensation or neurocognitive deficits. Manifestations of neonatal and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure.
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Intellectual disability, autosomal dominant 54
MedGen UID:
1614787
Concept ID:
C4540484
Mental or Behavioral Dysfunction
Hepatitis, fulminant viral, susceptibility to
MedGen UID:
1684882
Concept ID:
C5231406
Finding
Marbach-Rustad progeroid syndrome
MedGen UID:
1784907
Concept ID:
C5543388
Disease or Syndrome
Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).
Zaki syndrome
MedGen UID:
1794247
Concept ID:
C5562037
Disease or Syndrome
Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies (Chai et al., 2021).
Combined oxidative phosphorylation deficiency 28
MedGen UID:
1800504
Concept ID:
C5569081
Disease or Syndrome
Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Steffens DC
N Engl J Med 2024 Feb 15;390(7):630-639. doi: 10.1056/NEJMcp2305428. PMID: 38354142Free PMC Article
Park LT, Zarate CA Jr
N Engl J Med 2019 Feb 7;380(6):559-568. doi: 10.1056/NEJMcp1712493. PMID: 30726688Free PMC Article
Carrero JJ, Stenvinkel P, Cuppari L, Ikizler TA, Kalantar-Zadeh K, Kaysen G, Mitch WE, Price SR, Wanner C, Wang AY, ter Wee P, Franch HA
J Ren Nutr 2013 Mar;23(2):77-90. doi: 10.1053/j.jrn.2013.01.001. PMID: 23428357

Recent clinical studies

Therapy

England E, Cheng C
FP Essent 2024 Apr;539:13-17. PMID: 38648170
Leung AKC, Lam JM, Wong AHC, Hon KL, Li X
Curr Pediatr Rev 2024;20(3):339-356. doi: 10.2174/1573396320666230727102042. PMID: 37497686
Sahathevan S, Khor BH, Ng HM, Gafor AHA, Mat Daud ZA, Mafra D, Karupaiah T
Nutrients 2020 Oct 15;12(10) doi: 10.3390/nu12103147. PMID: 33076282Free PMC Article
Milano K, Chatoor I, Kerzner B
Curr Gastroenterol Rep 2019 Aug 23;21(10):51. doi: 10.1007/s11894-019-0719-0. PMID: 31444689
Haun MW, Estel S, Rücker G, Friederich HC, Villalobos M, Thomas M, Hartmann M
Cochrane Database Syst Rev 2017 Jun 12;6(6):CD011129. doi: 10.1002/14651858.CD011129.pub2. PMID: 28603881Free PMC Article

Prognosis

Liu CK, Miao S, Giffuni J, Katzel LI, Fielding RA, Seliger SL, Weiner DE
Kidney360 2023 Apr 1;4(4):e457-e465. Epub 2023 Feb 14 doi: 10.34067/KID.0000000000000078. PMID: 36790849Free PMC Article
Serra F, Gordon-Smith K, Perry A, Fraser C, Di Florio A, Craddock N, Jones I, Jones L
Bipolar Disord 2019 Sep;21(6):547-555. Epub 2019 May 6 doi: 10.1111/bdi.12778. PMID: 31004555
O'Keeffe M, Kelly M, O'Herlihy E, O'Toole PW, Kearney PM, Timmons S, O'Shea E, Stanton C, Hickson M, Rolland Y, Sulmont Rossé C, Issanchou S, Maitre I, Stelmach-Mardas M, Nagel G, Flechtner-Mors M, Wolters M, Hebestreit A, De Groot LCPGM, van de Rest O, Teh R, Peyron MA, Dardevet D, Papet I, Schindler K, Streicher M, Torbahn G, Kiesswetter E, Visser M, Volkert D, O'Connor EM; MaNuEL consortium
Clin Nutr 2019 Dec;38(6):2477-2498. Epub 2018 Dec 11 doi: 10.1016/j.clnu.2018.12.007. PMID: 30685297
Zickgraf HF, Ellis JM
Appetite 2018 Apr 1;123:32-42. Epub 2017 Dec 5 doi: 10.1016/j.appet.2017.11.111. PMID: 29208483
Haun MW, Estel S, Rücker G, Friederich HC, Villalobos M, Thomas M, Hartmann M
Cochrane Database Syst Rev 2017 Jun 12;6(6):CD011129. doi: 10.1002/14651858.CD011129.pub2. PMID: 28603881Free PMC Article

Clinical prediction guides

Steffens DC
N Engl J Med 2024 Feb 15;390(7):630-639. doi: 10.1056/NEJMcp2305428. PMID: 38354142Free PMC Article
Leung AKC, Lam JM, Wong AHC, Hon KL, Li X
Curr Pediatr Rev 2024;20(3):339-356. doi: 10.2174/1573396320666230727102042. PMID: 37497686
Zhang Z, Jackson SL, Gillespie C, Merritt R, Yang Q
JAMA Netw Open 2023 Oct 2;6(10):e2337011. doi: 10.1001/jamanetworkopen.2023.37011. PMID: 37812418Free PMC Article
Miziak B, Walczak A, Szponar J, Pluta R, Czuczwar SJ
Expert Opin Drug Metab Toxicol 2019 May;15(5):407-415. Epub 2019 Apr 16 doi: 10.1080/17425255.2019.1605355. PMID: 30991855
Haun MW, Estel S, Rücker G, Friederich HC, Villalobos M, Thomas M, Hartmann M
Cochrane Database Syst Rev 2017 Jun 12;6(6):CD011129. doi: 10.1002/14651858.CD011129.pub2. PMID: 28603881Free PMC Article

Recent systematic reviews

Rudzińska A, Piotrowicz K, Perera I, Gryglewska B, Gąsowski J
Nutrients 2023 Jun 29;15(13) doi: 10.3390/nu15132966. PMID: 37447292Free 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
O'Keeffe M, Kelly M, O'Herlihy E, O'Toole PW, Kearney PM, Timmons S, O'Shea E, Stanton C, Hickson M, Rolland Y, Sulmont Rossé C, Issanchou S, Maitre I, Stelmach-Mardas M, Nagel G, Flechtner-Mors M, Wolters M, Hebestreit A, De Groot LCPGM, van de Rest O, Teh R, Peyron MA, Dardevet D, Papet I, Schindler K, Streicher M, Torbahn G, Kiesswetter E, Visser M, Volkert D, O'Connor EM; MaNuEL consortium
Clin Nutr 2019 Dec;38(6):2477-2498. Epub 2018 Dec 11 doi: 10.1016/j.clnu.2018.12.007. PMID: 30685297
Haun MW, Estel S, Rücker G, Friederich HC, Villalobos M, Thomas M, Hartmann M
Cochrane Database Syst Rev 2017 Jun 12;6(6):CD011129. doi: 10.1002/14651858.CD011129.pub2. PMID: 28603881Free PMC Article
Fávaro-Moreira NC, Krausch-Hofmann S, Matthys C, Vereecken C, Vanhauwaert E, Declercq A, Bekkering GE, Duyck J
Adv Nutr 2016 May;7(3):507-22. Epub 2016 May 16 doi: 10.3945/an.115.011254. PMID: 27184278Free PMC Article

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