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GLYCOGEN STORAGE DISEASE TYPE 0a

GLYCOGEN STORAGE DISEASE TYPE 0a
GSD0a; HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN-SYNTHETASE IN LIVER
240600
OMIM = Online Mendelian Inheritance of Men
2089
Glycogen [starch] synthase, liver
2.4.1.11
12p12.1
E74.0
very rare
autosomal recessive
mutation in the GYS2 gene
diagnosis: liver biopsy
Laboratory findings    D-Glucose dec (serum)
    Glycogen normal/dec (liver)
    Glycogen synthase dec (liver)
    Ketone bodies (urine) inc (blood)
    Ketone bodies (urine) inc (urine)
    L-Lactic acid inc (blood)
Symptoms    growth retardation, poor growth
    hypoglycemia
    ketosis, ketoacidosis
    lethargy, drowsiness, apathy
    mental retardation
    microcephaly (<2 SD for age)
    onset, infancy
    onset, neonatal
    seizures
    small for gestational age (SGA), intrauterine growth retardation (IUGR)
    sweating