Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.

作者信息

Burlina A B, Gibson K M, Ruitenbeek W, Bonafè L, Bennett M J

机构信息

Department of Pediatrics, University of Padova, Italy.

出版信息

J Inherit Metab Dis. 1998 Dec;21(8):864-6. doi: 10.1023/a:1005426920116.

DOI:10.1023/a:1005426920116

PMID:9870212

Abstract

摘要

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Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency.

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Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.

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