AMACR2013

Breakdown of fatty acids in peroxisomes. Pristanic acid and phytanic acid are both methylated branched fatty acids found in various dietary sources. They are metabolized in peroxisomes and alpha-methyl-CoA-racemase (AMACR) is one of the enzymes required for this. Peroxisomes cannot breakdown these fatty acids completely, but require the mitochrondria to continue once C11-CoA is produced. AMACR deficiency leads to an accumulation of pristanic acid that can be measured in blood.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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