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Nonketotic hypoglycemia

MedGen UID:
400730
Concept ID:
C1865292
Finding
Synonym: Hypoglycemia, nonketotic
 
HPO: HP:0001958

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNonketotic hypoglycemia

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Very long chain acyl-CoA dehydrogenase deficiency
MedGen UID:
854382
Concept ID:
C3887523
Disease or Syndrome
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.

Professional guidelines

PubMed

Mustafa OG, Haq M, Dashora U, Castro E, Dhatariya KK; Joint British Diabetes Societies (JBDS) for Inpatient Care Group
Diabet Med 2023 Mar;40(3):e15005. Epub 2022 Dec 21 doi: 10.1111/dme.15005. PMID: 36370077Free PMC Article
Roženková K, Güemes M, Shah P, Hussain K
J Clin Res Pediatr Endocrinol 2015 Jun;7(2):86-97. doi: 10.4274/jcrpe.1891. PMID: 26316429Free PMC Article
Mendez CE, Umpierrez G
Hosp Pract (1995) 2013 Aug;41(3):89-100. doi: 10.3810/hp.2013.08.1072. PMID: 23948625

Recent clinical studies

Etiology

Shiohama T, Fujii K, Kosaki R, Watanabe Y, Uchida T, Hagiwara S, Kinoshita K, Sugita K, Aoki Y, Shimojo N
Am J Med Genet A 2022 Dec;188(12):3505-3509. Epub 2022 Aug 9 doi: 10.1002/ajmg.a.62926. PMID: 35943247
Angle B, Burton BK
Mol Genet Metab 2008 Jan;93(1):36-9. Epub 2007 Oct 31 doi: 10.1016/j.ymgme.2007.09.015. PMID: 17977044

Diagnosis

Shiohama T, Fujii K, Kosaki R, Watanabe Y, Uchida T, Hagiwara S, Kinoshita K, Sugita K, Aoki Y, Shimojo N
Am J Med Genet A 2022 Dec;188(12):3505-3509. Epub 2022 Aug 9 doi: 10.1002/ajmg.a.62926. PMID: 35943247
Rice GM, Steiner RD
Pediatr Rev 2016 Jan;37(1):3-15; quiz 16-7, 47. doi: 10.1542/pir.2014-0122. PMID: 26729777
Köksal T, Gündüz M, Özaydın E, Azak E
Indian J Pediatr 2015 Jul;82(7):645-8. Epub 2015 Feb 25 doi: 10.1007/s12098-015-1722-6. PMID: 25708061
Merritt JL 2nd, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB
Mol Genet Metab 2006 Aug;88(4):351-8. Epub 2006 Apr 18 doi: 10.1016/j.ymgme.2006.02.010. PMID: 16621643
Winter SC, Szabo-Aczel S, Curry CJ, Hutchinson HT, Hogue R, Shug A
Am J Dis Child 1987 Jun;141(6):660-5. doi: 10.1001/archpedi.1987.04460060076039. PMID: 3578191

Therapy

Köksal T, Gündüz M, Özaydın E, Azak E
Indian J Pediatr 2015 Jul;82(7):645-8. Epub 2015 Feb 25 doi: 10.1007/s12098-015-1722-6. PMID: 25708061
Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F
Diabetes 2002 Apr;51(4):1240-6. doi: 10.2337/diabetes.51.4.1240. PMID: 11916951
Winter SC, Szabo-Aczel S, Curry CJ, Hutchinson HT, Hogue R, Shug A
Am J Dis Child 1987 Jun;141(6):660-5. doi: 10.1001/archpedi.1987.04460060076039. PMID: 3578191
Roe CR, Millington DS, Maltby DA
J Clin Invest 1986 Apr;77(4):1391-4. doi: 10.1172/JCI112446. PMID: 3958190Free PMC Article
Slonim AE, Borum PR, Tanaka K, Stanley CA, Kasselberg AG, Greene HL, Burr IM
J Pediatr 1981 Oct;99(4):551-5. doi: 10.1016/s0022-3476(81)80252-1. PMID: 7277094

Prognosis

Angle B, Burton BK
Mol Genet Metab 2008 Jan;93(1):36-9. Epub 2007 Oct 31 doi: 10.1016/j.ymgme.2007.09.015. PMID: 17977044
Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F
Diabetes 2002 Apr;51(4):1240-6. doi: 10.2337/diabetes.51.4.1240. PMID: 11916951
Pierce MR, Pridjian G, Morrison S, Pickoff AS
Clin Pediatr (Phila) 1999 Jan;38(1):13-20. doi: 10.1177/000992289903800102. PMID: 9924637

Clinical prediction guides

Tang C, Liu S, Wu M, Lin S, Lin Y, Su L, Zhang J, Feng Y, Huang Y
Clin Chim Acta 2019 Aug;495:476-480. Epub 2019 May 17 doi: 10.1016/j.cca.2019.05.018. PMID: 31108048
Köksal T, Gündüz M, Özaydın E, Azak E
Indian J Pediatr 2015 Jul;82(7):645-8. Epub 2015 Feb 25 doi: 10.1007/s12098-015-1722-6. PMID: 25708061
Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F
Diabetes 2002 Apr;51(4):1240-6. doi: 10.2337/diabetes.51.4.1240. PMID: 11916951
Scaglia F, Wang Y, Singh RH, Dembure PP, Pasquali M, Fernhoff PM, Longo N
Genet Med 1998 Nov-Dec;1(1):34-9. doi: 10.1097/00125817-199811000-00008. PMID: 11261427
Winter SC, Szabo-Aczel S, Curry CJ, Hutchinson HT, Hogue R, Shug A
Am J Dis Child 1987 Jun;141(6):660-5. doi: 10.1001/archpedi.1987.04460060076039. PMID: 3578191

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