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 |