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GLYCOGEN STORAGE DISEASE TYPE XI

GLYCOGEN STORAGE DISEASE TYPE XI
GSD11
612933
OMIM = Online Mendelian Inheritance of Men
2364
L-lactate dehydrogenase A chain
11p15.1
E74.4
rare
autosomal recessive
mutation in the LDHA gene
Laboratory findings    Creatine kinase inc (plasma)
    Glycogen normal/inc (muscle)
    L-Lactic acid inc (plasma)
    Lactate dehydrogenase (LDH) dec (muscle)
    Myoglobin normal/inc (urine)
    Pyruvic acid inc (serum)
Symptoms    exertion intolerance
    lactic acidosis
    muscle cramps
    muscle stiffness
    muscle weakness
    onset, childhood
    pain, muscle
    renal failure, acute/chronic
    rhabdomyolysis
    skin defects
    skin rash, eczematous or seborrhoic