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Summary
GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE
GSD6 GLYCOGEN STORAGE DISEASE VI
232700
OMIM = Online Medalian Inheritance of Men
369
14q22.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • frequent feeding
  • maltodextrin
rare (1:1000.000)
autosomal recessive
symptoms
facies, cherubic (dolls face)
growth retardation
hepatomegaly (large liver)
hypoglycemia
hypotonia
ketosis
onset, child
onset, infant
onset, newborn
prominent abdomen
laboratory finding
Uric acid0.000.000.605.50normalplasmachild
Cholesterol5.0010.003.105.20mmol/lserum
Glucose0.501.002.803.80mmol/lserum
Lactate3.0010.000.801.50normalbloodchild
Transaminases30.00260.0010.0030.00U/lserum
Triglycerides0.000.0030.0099.00increasedserum
Liver phosphorylase 100.00decreased activityliver
Phosphorylase kinase 100.00decreased activityliver
Phosphorylase kinase 100.00decreased activitymuscle
Ketone bodies0.000.00 +/++urineno data
Biotinidase normal-increasedplasma
Literature
Chernova MNet al.Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytesJ Physiol54903-192003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Zafeiriou DIet al.Ethylmalonic encephalopathy: clinical and biochemical observationsNeuropediatrics38278-822007
Pagnamenta ATet al.Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIMol Genet Metab893214-2212006
Herrmann Wet al.Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetariansAm J Clin Nutr781131-1362003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994