3-Hydroxy-3-Methylglutaric Aciduria

被引：17

作者：

Greene, Carol L. ^{[1
]}

Cann, Howard M. ^{[1
]}

Robinson, Brian H. ^{[2
,3
,4
]}

Gibson, Kenneth M. ^{[5
,6
]}

Sweetman, Lawrence ^{[5
,6
]}

Holm, Jan ^{[5
,6
]}

Nyhan, William L. ^{[5
,6
]}

机构：

[1] Stanford Univ, Med Ctr, Dept Pediat, Stanford, CA 94305 USA

[2] Univ Toronto, Dept Biochem, Toronto, ON, Canada

[3] Univ Toronto, Dept Pediat, Toronto, ON, Canada

[4] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada

[5] Univ Calif San Diego, Dept Pediat, M-009, La Jolla, CA 92093 USA

[6] Univ Calif San Diego, Dept Chem, La Jolla, CA 92093 USA

来源：

JOURNAL OF NEUROGENETICS | 1984年 / 1卷 / 02期

基金：

美国国家卫生研究院;

关键词：

3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase; hypoglycemia; metabolic acidosis without ketonuria; hyperammonemia;

D O I：

10.3109/01677068409107082

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglecemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzym A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

引用

页码：165 / 173

页数：9

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