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Unstable galactose-1-phosphate uridyl transferase: A new variant of galactosemia

1971; Elsevier BV; Volume: 78; Issue: 3 Linguagem: Inglês

10.1016/s0022-3476(71)80226-3

1097-6833

Claramma M. Chacko, Joe C. Christian, Henry L. Nadler,

Neonatal Health and Biochemistry

The presence of an unstable form of galactose-1-phosphate uridyl transferase in apatient with clinical galactosemia is described. Galactose-1-phosphate uridyl transferase activity in the red blood cells was approximately 40 per cent of normal and demonstrated storage instability in heparin and isotonic phosphate buffer. Galactose-1-phosphate uridyl transferase from the mother and maternal grandmother demonstrated storge instability and a slower electrophoretic mobility than normal. These data suggest the presence of an additional allele at the transferase locus, which may result in a new variant of clinical galactosemia, hereby referred to as the Indiana variant. The presence of an unstable form of galactose-1-phosphate uridyl transferase in apatient with clinical galactosemia is described. Galactose-1-phosphate uridyl transferase activity in the red blood cells was approximately 40 per cent of normal and demonstrated storage instability in heparin and isotonic phosphate buffer. Galactose-1-phosphate uridyl transferase from the mother and maternal grandmother demonstrated storge instability and a slower electrophoretic mobility than normal. These data suggest the presence of an additional allele at the transferase locus, which may result in a new variant of clinical galactosemia, hereby referred to as the Indiana variant.