go back

GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE

GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE
GSD5; GLYCOGEN STORAGE DISEASE V;
232600
OMIM = Online Mendelian Inheritance of Men
368
Glycogen phosphorylase, muscle form
2.4.1.1
11q13.1
E74.0
rare (1:1000.000)
autosomal recessive
mutation in the PYGM gene
diagnosis: ammonia, inosine, hypoxanthine and uric acid increase with exercise 31P MRI muscle biopsy
Laboratory findings    Ammonia normal/inc (blood)
    Creatine kinase inc (serum)
    Glycogen phosphorylase (muscle ) dec (muscle)
    Myoglobin normal/inc (urine)
    Uric acid inc (plasma)
Symptoms   exertion intolerance
    brown colored urine
    decreased muscle volume, atrophy or hypoplasia
    dysphagia
    exercise intolerance
    fatigue, severe or unusual
    hyperammonemia
    MRI, muscle, abnormalities [-]
    muscle cramps
    muscle weakness
    muscular rigidity
    myopathy
    onset, adolescent
    onset, childhood
    pain, muscle
    rhabdomyolysis
    urine color, abnormal