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GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE

GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE
GSD3; FORBES DISEASE, CORI DISEASE, DEBRANCHER GLYCOGENOSIS
232400
OMIM = Online Mendelian Inheritance of Men
366
Glycogen debranching enzyme
3.2.1.33
1p21.2
E74.0
rare (1:125000, Israel 1:5420)
autosomal recessive
2 types:
- IIIa: liver and muscle involvement, almost indistinguishable from GSD I in infancy
- IIIb: only liver involvement (15%)
Laboratory findingsL-Lactic acid normal (plasma)
Transaminases (ASAT/ALAT) normal/inc (serum)
   Amylo-1,6-glucosidase dec (liver)
   Amylo-1,6-glucosidase dec (muscle)
   Cholesterol inc (plasma)
   Creatine kinase normal/inc (serum)
   D-Glucose normal/dec (serum)
   Glycogen inc (liver)
   Ketone bodies (urine) inc (urine)
   Triglycerides inc (serum)
    Uric acid normal/inc (serum)
Symptoms   adiposity
   cardiomyopathy
   cardiomyopathy, hypertrophic
   cirrhosis or fibrosis of liver
   hepatomegaly (large liver)
   hypoglycemia
   liver involvement or dysfunction
   muscle weakness
   myopathy
   osteopenia
   short stature
    ECG abnormalities [-]
    EMG abnormalities [-]
    growth retardation, poor growth
    hypotonia
    ketosis, ketoacidosis
    liver carcinoma
    onset, adolescent
    onset, childhood
    onset, infancy
    progressive muscle defect
    seizures