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Summary
GLYCOGENOSIS, TYPE IXC
GLYCOGENOSIS, TYPE IXC
604549
OMIM = Online Medalian Inheritance of Men
unknown
very rare autosomal recessive one patient known to the authors (unpublished) died at 7 months of age 3 types: IXa: X-linked recessive IXb: autosomal recessive IXc: autosomal recessive The classification is still a matter of dispute.
symptoms
cardiomegaly
early death
onset, newborn
laboratory finding
Phosphorylase kinase 100.00decreased activityheart
Creatine kinase 40.00400.00increasedserum
ECG abnormalities -
Literature
Tumer Zet al.First trimester prenatal diagnosis of Menkes disease by DNA analysisJ Med Genet318615-6171994
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
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