3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency

V. R. Sutton, W. E. O'Brien, G. D. Clark, J. Kim, R. J. A. Wanders

doi:10.1023/a:1024083715568

3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency

DOI Web Site Web Site 被引用文献3件

V. R. Sutton

Department of Molecular and Human Genetics USA
W. E. O'Brien

Department of Molecular and Human Genetics USA
G. D. Clark

Department of Neurology Baylor College of Medicine Houston Texas
J. Kim

Neurology Shreveport Louisiana USA
R. J. A. Wanders

Laboratory of Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Centre University of Amsterdam Amsterdam The Netherlands

書誌事項

公開日: 2003-07

権利情報

http://onlinelibrary.wiley.com/termsAndConditions#vor

DOI

10.1023/a:1024083715568

公開者: Wiley

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説明

<jats:title>Abstract</jats:title><jats:p><jats:bold>Summary:</jats:bold> A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3‐hydroxy‐2‐methylbutyric acid and tiglyglycine; 3‐ketothiolase enzyme activity was normal and he was subsequently found to have 3‐hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency.</jats:p>