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Summary
KETOTIC HYPOGLYCEMIA
unknown

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • frequent feeding
  • glucose infusion (acute)
  • high-carbohydrate diet
Ketotic hypoglycaemia is a common form of hypoglycaemia in childhood, should only be diagnosed after exclusion of disorders of carbohydrate or fat metabolism!
symptoms
hypoglycemia
ketosis, ketoacidosis
onset, childhood
vomiting
laboratory finding
Glucose0.501.002.803.80mmol/lserum
Ketone bodies +++urine
Ketone bodies4.0010.00 mmol/lblood
3-Hydroxybutyric acid increased
Literature
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Huijmans JGet al.Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatmentPediatrics1060596-6002000
Nota B,et al.Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduriaAm J Hum Genet924627-6312013
Yorifuji Tet al.Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kineticsHum Genet1040476-48-791999
M+Ôé¼hlhausen C,et al.Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatmentJ Inherit Metab Dis375775-7812014
Wang Q,et al.Purification and characterization of aspartate N-acetyltransferase: A critical enzyme in brain metabolismProtein Expr Purif119011-182015
Delaney KE,et al.An atypical case of Canavan disease with stroke-like presentationPediatr Neurol522218-2212015
Hsu BYet al.Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndromeJ Pediatr1380383-3892001
Lehnert Wet al.2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency - new case report15. Jahrestagung der Arbeitsgemeinschaft f+€r P+ñdiatrische Stoffwechselst+Ârungen -APS-7.-9. M+ñrz 2001Fulda002001
Hoshino H,Kubota MCanavan disease: clinical features and recent advances in researchPediatr Int564477-4832014
Molenaar RJ,et al.The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongationBiochim Biophys Acta18462326-3412014
Drera B,Poggiani CBrain ultrasound in Canavan diseaseJ Ultrasound. 2014173215-2172014