Clinical variant galactosemia

定义 英文原文（暂无中文）

A form GALT deficiency characterized by residual GALT activity between 1-10% of control activity. Clinical features are similar to the patients presenting with classic galactosemia, including life threatening complications including feeding problems, failure to thrive, hepatocellular damage include cirrhosis and bleeding in untreated infants. With adequate and early treatment patients do not usually present risk for long-term complications, including premature ovarian insufficiency. Compared to classic galactosemia patients usually are not considered as having a high risk for developmental delay, speech and motor function abnormalities.

基本事实

发病年龄

新生儿期

外部标识与链接