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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
mutation in the GYS2 gene
diagnosis: liver biopsy
symptoms
growth retardation
hypoglycemia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
sweating
laboratory finding
Glycogen synthase 100.00decreased activityliver
D-Glucose1.003.002.803.80mmol/lserum
Ketone bodies increasedblood
L-Lactic acid2.004.000.901.80mmol/lblood
Ketone bodies0.000.00 +/++urineno data
Glycogen normal-decreasedliver
Literature
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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
Carpinelli MR,et al.A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelinationDis Model Mech76649-6572014
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