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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, fat metabolism, syndromes, drugs (e.g. Propranolol) ...
Fatty acid oxidation defects, hyperinsulinism and adrenal insufficiency
should always be excluded prior to organising controlled fasts [Sreekantam S et al. 2017].
symptoms
hypoglycemia
ketosis, ketoacidosis
onset, childhood
onset, infancy
vomiting
laboratory finding
D-Glucose0.501.001.703.70mmol/lserum
Ketone bodies +++urine
Ketone bodies4.0010.00 mmol/lblood
3-Hydroxybutyric acid mmol/mol creatinine
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
Muehlhausen 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
Ramanjam V,et al.The diagnostic difficulties of complex glycerol kinase deficiencyJ Child Neurol25101269-12712010
Griffiths WJ,et al.Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutationHepatology513788-7952010
Montosi G,et al.Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) geneJ Clin Invest1084619-6232001
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 Ultrasound173215-2172014