急性肝卟啉症
基因病名称(英)
Acute hepatic porphyria
别名(英)
ALAD deficiency,Delta-aminolevulinate dehydratase deficiency,Doss porphyria,Porphobilinogen synthase deficiency,Porphyria ALAD
别名
ALAD 缺乏症、Delta-氨基乙酰丙酸脱水酶缺乏症、Doss 卟啉症、胆色素原合酶缺乏症、卟啉症 ALAD
统计
reviewed:1; annotated:0
交叉引用
612740,C0268328,C2748608,D017094
描述(英)
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
描述
卟啉症的一种。卟啉症是血红素生物合成中的遗传缺陷，导致卟啉或卟啉前体的积累和排泄增加。根据酶缺乏是发生在红细胞还是肝脏中，它们被分为红细胞生成性或肝脏性。AHP 的特点是胃肠道紊乱、腹绞痛、瘫痪和周围神经病变。大多数发作是由药物、酒精、热量剥夺、感染或内分泌因素引起的。