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Summary
GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)
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 100.00activityliver
Phosphorylase kinase 100.00activitymuscle
Cholesterol 3.105.20mmol/lserum
Triglycerides 30.0099.00mmol/lserum
Transaminases 10.0030.00U/lserum
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