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3-Hydroxy-3-Methylglutaric Aciduria

 

作者: GreeneCarol L.,   CannHoward M.,   RobinsonBrian H.,   GibsonKenneth M.,   SweetmanLawrence,   HolmJan,   NyhanWilliam L.,  

 

期刊: Journal of Neurogenetics  （Taylor Available online 1984）
卷期: Volume 1, issue 2  

页码: 165-173

 

ISSN:0167-7063

 

年代: 1984

 

DOI:10.3109/01677068409107082

 

出版商: Taylor&Francis

 

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

 

数据来源: Taylor

 

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-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

 

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