N. Bresolin et al., CLINICAL AND BIOCHEMICAL-EVIDENCE OF SKELETAL-MUSCLE INVOLVEMENT IN GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY, Journal of neurology, 240(5), 1993, pp. 272-277
A 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT)
deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly,
bilateral cataract and mild mental retardation. Two brothers showed a
GALT activity consistent with a homozygotic condition and both parents
were found to be heterozygotes for this defect. Histological and ultr
astructural examination of muscle biopsy specimens showed several necr
otic fibres. GALT activity was undetectable in skeletal muscle and mus
cle tissue cultures; myotubes converted galactose to CO2 at a lower ra
te than controls. Galactose-1-phosphate was increased in the patient's
red cells and muscle tissue. GALT deficiency, not previously describe
d in muscle, may be of pathogenic relevance in determining the myopath
ic features present in GALT deficiency syndrome.