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Summary
GLYCOGENOSIS, TYPE IXA
GLYCOGEN STORAGE DISEASE VIII GLYCOGENOSIS, TYPE IXA
306000
OMIM = Online Medalian Inheritance of Men
370
Xp12-q13

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 the classification is still a matter of dispute.
symptoms
growth retardation
hepatomegaly (large liver)
ketosis
onset, infant
prominent abdomen
laboratory finding
Ketone bodies +/++urine
Phosphorylase kinase 100.00decreased activityliver
Triglycerides 30.0099.00increasedserum
Cholesterol 3.105.20increasedserum
Transaminases 10.0030.00increasedserum
Uric acid 0.605.50increasedserum
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994