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Summary
HYPOGLYCEMIA, FAMILIAL NEONATAL
HYPOGLYCEMIA, LEUCINE INDUCED
240800
OMIM = Online Medalian Inheritance of Men
11p15.1
rare
autosmal dominant
mutation in the SUR1 gene
symptoms
ataxia
coma
hyperammonemia
hypertonia, spasticity
hypoglycemia
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, neonatal
seizures
strabismus
laboratory finding
D-Glucose 2.002.805.00mmol/lserum
Insulin 0.100.50increasedserum
Literature
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Yap Set al.The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiencyJ Inherit Metab Dis240437-4472001
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Hoffmann GFet al.Hyper-2-oxoglutaric aciduria in long-term mental handicapJ Ment Defic Res300251-2601986