[A case of galactosemia caused by galactokinase deficiency].
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.
D005686:Galactokinase / Q000172:deficiency*; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology*; D008297:Male; D014531:Uridine Diphosphate Galactose / Q000378:metabolism
D014531:Uridine Diphosphate Galactose; D005686:Galactokinase; D005690:Galactose
Su un caso di Galattosemia da deficit di Galattochinasi.