Visit Metagene.de!
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
mutation in the PYGL gene
symptoms
facies, cherubic (dolls face)
growth retardation, poor growth
hepatomegaly (large liver)
hypoglycemia
hypotonia
ketosis, ketoacidosis
onset, childhood
onset, infancy
onset, neonatal
prominent abdomen
laboratory finding
Uric acid0.000.00120.00350.00normalplasmachild
Cholesterol5.0010.003.105.20mmol/lserum
D-Glucose0.501.001.703.70mmol/lserum
Lactic acid3.0010.000.801.50mmol/lblood
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 +/++urine
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
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