亚胺甲基谷氨酸尿症中的红细胞亚胺甲基谷氨酸转移酶
Erythrocyte formimino glutamate transferase in FIGLU aciduria.
作者信息
Lato M, Minelli A, Ghebregzabher M, Martelli A M, Rufini S
出版信息
Pediatr Med Chir. 1986 Nov-Dec;8(6):855-8.
PMID:3601714
Abstract
A patient is described who presented at an early age with failure to thrive and vomiting, and had a gross excretion of formimino glutamic acid. She had normal concentration of serum folate and vitamin B12, and no haematological abnormalities, and is not mentally retarded. The Michaelis constant for erythrocyte formimino glutamate transferase was in the normal range, but the enzyme behaves differently from that from reference subjects with respect to inhibitors and activators.
摘要
描述了一名患者，其在幼年时出现生长发育迟缓及呕吐症状，且尿中大量排泄亚胺甲基谷氨酸。她的血清叶酸和维生素B12浓度正常，无血液学异常，智力也不迟钝。红细胞亚胺甲基谷氨酸转移酶的米氏常数在正常范围内，但该酶在抑制剂和激活剂方面与对照受试者的酶表现不同。
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