Holton J B, Gillett M G, MacFaul R, Young R
Arch Dis Child. 1981 Nov;56(11):885-7. doi: 10.1136/adc.56.11.885.
A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.
一名婴儿在出生第5天出现经典半乳糖血症症状，据信这是由于缺乏尿苷二磷酸-4-表异构酶，而非通常的1-磷酸半乳糖尿苷转移酶缺陷所致。除半乳糖血症外，该病症的生化特征是红细胞中1-磷酸半乳糖和尿苷二磷酸半乳糖蓄积。限制半乳糖摄入可改善急性临床和生化异常，但在这种情况下，饮食中似乎必须包含一些半乳糖，以利于包括脑苷脂在内的半乳糖苷的合成。
