title: Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.
abstract: An 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 ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.
authors.affiliation: Institute of Clinical Neurology, Dino Ferrari Center, University of Milan, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: F
authors.initials: F
authors.lastname: Fortunato
authors.forename: G
authors.initials: G
authors.lastname: Meola
authors.forename: A
authors.initials: A
authors.lastname: Gallanti
authors.forename: A
authors.initials: A
authors.lastname: Tajana
authors.forename: M
authors.initials: M
authors.lastname: Velicogna
authors.forename: E F
authors.initials: EF
authors.lastname: Gonano
authors.forename: P
authors.initials: P
authors.lastname: Ninfali
authors.forename: S
authors.initials: S
authors.lastname: Pifferi
mesh_terms: D001706:Biopsy; D002648:Child; D005693:Galactosemias / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005695:Galactosephosphates / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology* / Q000473:pathology; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics; D009132:Muscles / Q000737:chemistry / Q000473:pathology*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
chemical_list: D005695:Galactosephosphates; D009124:Muscle Proteins; C029973:galactose-1-phosphate; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase