New peroxisomal beta-oxidation defect

Posted by & filed under Part 15: PEROXISOMES.

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

S. Ferdinandusse et al.

Am. J. Hum. Genet., 78:1046-1052, 2006

This group describes a patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids.

For more information on Single Peroxisomal Enzyme Deficiencies, please see OMMBID Chapter 130.

Thank you very much for your contribution to this blog.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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