甲硫氨酸腺苷转移酶缺乏症：与高甲硫氨酸血症相关的新酶缺陷。
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
作者信息
Gaull G E, Tallan H H
出版信息
Science. 1974 Oct 4;186(4158):59-60. doi: 10.1126/science.186.4158.59.
PMID:4421454
Abstract
A specific deficiency of methionine adenosyltransferase has been demonstrated in the liver of an infant with hypermethioninemia. Since the enzymatic activity was below that in fetal liver and the metabolic abnormality has persisted (the infant now being 1 year of age), there is probably a genetic mutation. Mass screening for hypermethioninemia may uncover more such cases.
摘要
在一名患有高甲硫氨酸血症的婴儿肝脏中，已证实存在甲硫氨酸腺苷转移酶的特异性缺乏。由于酶活性低于胎儿肝脏中的活性，且代谢异常持续存在（该婴儿现已1岁），可能存在基因突变。对高甲硫氨酸血症进行大规模筛查可能会发现更多此类病例。
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