一名看似健康的婴儿出现高甲硫氨酸血症和3-羟基异丁酸尿症。
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
作者信息
Congdon P J, Haigh D, Smith R, Green A, Pollitt R J
出版信息
J Inherit Metab Dis. 1981;4(2):79-80. doi: 10.1007/BF02263600.
PMID:6790857
Abstract
An apparently healthy baby with persistent hypermethioninaemia excretes increased amounts of 3-hydroxyisobutyrate, 3-hydroxypropionate, beta-aminoisobutyrate and beta-alanine. A defect in the oxidation of methylmalonic and malonic semialdehydes is proposed but the cause of the hypermethioninaemia is obscure.
摘要
一名看似健康但患有持续性高甲硫氨酸血症的婴儿排泄出大量的3-羟基异丁酸、3-羟基丙酸、β-氨基异丁酸和β-丙氨酸。有人提出甲基丙二酸和丙二酸半醛氧化存在缺陷，但高甲硫氨酸血症的病因尚不清楚。
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