Sebastio G, Albini F, di Martino L, Magurno T, Baffa E, Ciaffoni F
Pediatr Med Chir. 1982 Nov-Dec;4(6):685-6.
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.
作者描述了一名6个月大的患有半乳糖血症的女孩，病因是1-磷酸半乳糖尿苷转移酶缺乏。该患者出现肝脾肿大和生长发育迟缓，无神经功能损害或白内障。在这种情况下，尽管较晚才从饮食中去除半乳糖，但患者最终实现了正常的生长发育。作者强调，即使临床表现不典型，排除半乳糖血症也很重要。
