[Efficacy of dietetic treatment in a case of galactosemia diagnosed late].
The authors describe a six months old girl affected by galactosemia, due to Galacto-1-phosphate Uridyl Transferase deficiency. The patient presented with hepatosplenomegaly and failure to thrive, without neurological impairment or cataracts. In this case removal of galactose from diet, although lately performed, resulted in normal growth and development. The authors emphasize the importance of ruling out galactosemia, even if clinical picture is unusual.
D005260:Female; D005693:Galactosemias / Q000178:diet therapy* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Efficacia del trattamento dietetico in un caso di galattosemia tardivamente diagnosticata.