Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency

N. Bresolin, G. P. Comi, F. Fortunato, G. Meola, A. Gallanti, A. Tajana, M. Velicogna, E. F. Gonano, P. Ninfali, S. Pifferi, G. Scarlato

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)272-277
Number of pages6
JournalJournal of Neurology
Volume240
Issue number5
DOIs
Publication statusPublished - May 1993

Keywords

  • Galactose-1-phosphate uridyl transferase deficiency
  • Myopathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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