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Summary
GLYCOGEN STORAGE DISEASE TYPE IXB
GSD9b PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE GLYCOGENOSIS, TYPE IXB
261750
OMIM = Online Medalian Inheritance of Men
370
16q12.1
rare
autosomal recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive
symptoms
cardiomyopathy, hypertrophic
facies, cherubic (dolls face)
growth retardation, poor growth
hepatomegaly (large liver)
no consistent clinical signs or symptoms
onset, infancy
laboratory finding
Phosphorylase kinase 100.00decreased activityliver
Phosphorylase kinase 100.00decreased activitymuscle
Cholesterol 3.105.20increasedserum
Triglycerides 30.0099.00increasedserum
Transaminases 10.0030.00increasedserum
Literature
Kuelkens Set al.Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyNeurology64122142-21442005
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