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E-pub ahead of print

Episodic hyperCKemia may be a feature of α-methylacyl-CoA racemase deficiency

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Vis graf over relationer

Fourteen cases of α-methylacyl-CoA racemase (AMACR) deficiency have been published (10 adults, 4 children) (1-13). AMACR deficiency typically has an adult onset with variable severity and a range of predominant symptoms (figure 1a). More rarely, AMACR deficiency presents in childhood with coagulopathy and hepatic disease. AMACR is involved in perioxsomal metabolism by racemizing 2R-pristanic acid, thus preparing the substrate for β-oxidation, which is stereoisomer specific (14). We describe a case with AMACR deficiency in whom relapsing episodes of hyperCKemia was one of the dominating symptoms.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Neurology
Sider (fra-til)epub
ISSN1351-5101
DOI
StatusE-pub ahead of print - 12 okt. 2020

Bibliografisk note

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