Portal de Periódicos da CAPES

[A case of galactosemia caused by galactokinase deficiency].

1984; National Institutes of Health; Volume: 6; Issue: 2 Linguagem: Inglês

Bolgiani Mp, M Gallenca, Barocelli Pc,

Erythrocyte Function and Pathophysiology

The authors describe an original case of galactokinase deficiency, born from a gypsies' family. He developed cataracts in the first two months of life. No other pathological features were observed. One of the brothers of the propositus was also blind for cataracts. The authors discuss the biochemical differences among the varieties of galactosaemia, and their relationship with the clinical differences.