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GLYCOGEN STORAGE DISEASE TYPE IXA (GSD9A)

GLYCOGEN STORAGE DISEASE TYPE IXA (GSD9A)
GSD9a; GLYCOGEN STORAGE DISEASE VIII; GLYCOGENOSIS, TYPE IXA
306000
OMIM = Online Mendelian Inheritance of Men
264580
Phosphorylase b kinase regulatory subunit alpha, liver isoform
2.7.11.19
Xp22.13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E74.0
rare
X-linked recessive
3 types:
- IXa: X-linked recessive
- IXb: autosomal recessive
- IXc: autosomal recessive
Laboratory findings    Cholesterol n/i (plasma)
    D-Glucose normal/dec (plasma)
    Ketone bodies (urine) inc (urine)
    Phosphorylase kinase dec (liver)
    Transaminases (ASAT/ALAT) inc (serum)
    Triglycerides normal/inc (serum)
    Uric acid inc (serum)
Symptoms    adiposity
    growth retardation, poor growth
    hepatomegaly (large liver)
    hypoglycemia
    ketosis, ketoacidosis
    onset, infancy
    prominent abdomen
    short stature