go back

GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE

GLYCOGEN STORAGE DISEASE TYPE VI. HERS DISEASE
GSD6; GLYCOGEN STORAGE DISEASE VI;
232700
OMIM = Online Mendelian Inheritance of Men
369
Glycogen phosphorylase, liver form
2.4.1.1
14q22.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E74.0
rare (1:1000.000)
autosomal recessive
mutation in the PYGL gene
Laboratory findings    Biotinidase normal/inc (plasma)
    Cholesterol n/i (plasma)
    D-Glucose normal/dec (serum)
    Ketone bodies (urine) inc (urine)
    L-Lactic acid normal/inc (blood)
    Liver phosphorylase dec (liver)
    Phosphorylase kinase dec (liver)
    Phosphorylase kinase dec (muscle)
    Transaminases (ASAT/ALAT) normal/inc (serum)
    Triglycerides inc (serum)
Symptomshepatomegaly (large liver)
hypoglycemia
short stature
   adiposity
   facies, cherubic (dolls face)
   obesity
    growth retardation, poor growth
    hypotonia
    ketosis, ketoacidosis
    onset, childhood
    onset, infancy
    onset, neonatal
    prominent abdomen