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GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)

GLYCOGEN STORAGE DISEASE TYPE IXB (GSD9B)
GSD9b; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE; GLYCOGENOSIS, TYPE IXB
261750
OMIM = Online Mendelian Inheritance of Men
370
Phosphorylase b kinase regulatory subunit beta
16q12.1
E74.0
rare
autosomal recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive
Laboratory findings    Cholesterol n/i (plasma)
    Phosphorylase kinase dec (liver)
    Phosphorylase kinase dec (muscle)
    Transaminases (ASAT/ALAT) inc (serum)
    Triglycerides inc (serum)
Symptoms   adiposity
   facies, cherubic (dolls face)
   hepatomegaly (large liver)
   hypoglycemia
    cardiomyopathy
    cardiomyopathy, hypertrophic
    diarrhea
    growth retardation, poor growth
    hypotonia
    muscle weakness
    no clinical symptoms (probably)
    onset, infancy
    short stature