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Summary
GLYCOGEN STORAGE DISEASE TYPE 0a
GSD0a HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN-SYNTHETASE IN LIVER
240600
OMIM = Online Medalian Inheritance of Men
2089
12p12.1
  • frequent feeding
very rare
autosomal recessive
diagnosis: liver biopsy
symptoms
birthweight low (small for gestational age)
growth retardation
hypoglycemia
ketosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly
onset, infant
onset, newborn
seizures
sweating
laboratory finding
Glycogen synthase 100.00decreased activityliver
Glucose1.003.002.803.80mmol/lserum
Ketone bodies increasedblood
Lactate2.004.000.901.80mmol/lblood
Ketone bodies0.000.00 +/++urineno data
Glycogen normal-decreasedliver
Literature
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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
King Aet al.Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancerOncogene25344675-46822006
Malatack JJMoran MM, Moughan BIsolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defectPediatrics10401133-11371999
Moser HWMoser ABMeasurement of phytanic acid levelsTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00193-2031991
Phillips TMet al.Fumarate hydratase deficiency in monozygotic twinsPediatr Neurol352150-1532006
Maradin Met al.Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutationsJ Inherit Metab Dis2956832006