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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
hepatomegaly (large liver)
no 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
Poloschek CMet al.Disturbed visual system function in methionine synthase deficiencyGraefes Arch Clin Exp Ophthalmol2435497-5002005
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