Visit Metagene.de!
Summary
GLYCOGEN STORAGE DISEASE TYPE IXA
GSD9a GLYCOGEN STORAGE DISEASE VIII GLYCOGENOSIS, TYPE IXA
306000
OMIM = Online Medalian Inheritance of Men
264580
Xp22.13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
X-linked recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive
symptoms
adiposity
growth retardation
hepatomegaly (large liver)
hypoglycemia
ketosis, ketoacidosis
onset, infancy
prominent abdomen
short stature
laboratory finding
Ketone bodies +/++urine
Phosphorylase kinase 100.00decreased activityliver
Triglycerides 30.0099.00normal-increasedserumchild
Cholesterol 3.105.20increasedserum
Transaminases 10.0030.00increasedserum
Uric acid 0.605.50increasedserum
D-Glucose normal-decreased (fasted)plasma
Literature
Fiege Bet al.Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot studyMol Genet Metab. 2005 Dec86 Suppl 1:S91-5. Epub 2005 Nov 1100S91-S952005
Kuelkens Set al.Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyNeurology64122142-21442005
L+€cke Tet al.BH4-sensitive hyperphenylalaninemia: new case and review of literaturePediatr Neurol. 2003 Mar28(3):228-30283228-2302003
Matalon Ret al.Response of patients with phenylketonuria in the US to tetrahydrobiopterinMol Genet Metab Suppl 100S17-S212005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Koelker Set al.Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in GermanyPediatr Res002007
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994