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Summary
GLYCOGEN STORAGE DISEASE TYPE IXC
GSD9c GLYCOGENOSIS, TYPE IXC
613027
OMIM = Online Medalian Inheritance of Men
264580
16p11.2
rare
autosomal recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive
symptoms
cirrhosis or fibrosis of liver
early death
growth retardation
hepatomegaly (large liver)
hypotonia
motor retardation
onset, child
onset, infant
onset, newborn
splenomegaly (large spleen)
laboratory finding
Phosphorylase kinase 100.00decreased activityheart
Creatine kinase 40.00400.00increasedserum
ECG abnormalities -
Transaminases normal-increasedserum
Lactate normal-increasedplasma
Glucose normal-decreased (fasted)plasma
Ketone bodies increased (fasted)plasma
Triglycerides normal-increasedplasma
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
Watkins Det al.Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173LAm J Hum Genet711143-1532002
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