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CONGENITAL DISORDER OF GLYCOSYLATION CDG-It

CONGENITAL DISORDER OF GLYCOSYLATION CDG-It
CDG1T; PGM1-CDG; GLYCOGEN STORAGE DISEASE XIV; GSD14
614921
OMIM = Online Mendelian Inheritance of Men
319646
Phosphoglucomutase-1
5.4.2.2
1p31.3
E77.8
rare
autosomal recessive
mutation in the PGM1 gene
Laboratory findings    Creatine kinase normal/inc (plasma)
    D-Glucose dec (plasma)
    IEF of serum transferrin (serum)
    Myoglobin normal/inc (urine)
    Phosphoglucomutase-1 dec (muscle)
    Transaminases (ASAT/ALAT) inc (serum)
Symptoms    bifid uvula
    cardiomyopathy, dilated
    cleft palate
    dyspnea
    exercise intolerance
    growth retardation, poor growth
    hyperthermia
    hypoglycemia
    hypoketotic hypoglycemia
    hypotonia
    liver involvement or dysfunction
    muscle cramps
    muscle weakness
    myopathy
    onset, childhood
    onset, infancy
    puberty, delayed or missing
    rhabdomyolysis
    short stature
    small chin or micrognathia
    thrombosis