Galactose-1-phosphate uridylyltransferase deficiency
定义 英文原文（暂无中文）
A group of galactosemias characterized by GALT deficiency and presenting with variable clinical features depending on the residual GALT activity present in affected individuals, going from classic galactosemia manifesting with life-threatening complications triggered by breastfeeding or the ingestion of lactose/galactose-containing formula in untreated infants and long term-complications despite diet (GALT activity <1%), to a less severe phenotype (GALT activity 1-10%) or completely asymptomatic patients (GALT activity 25-30%).
别名
GALT deficiency、GALT deficiency galactosemia、Galactose-1-phosphate uridylyltransferase deficiency galactosemia、Galactosemia type 1、Galactosemia type I、Type 1 galactosemia、Type I galactosemia
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）