Carnitine deficiency is a potential cause of metabolic crisis during periods of high energy demand or stress. Affected individuals have very low carnitine levels in blood, decreased carnitine transport in fibroblasts, and commonly have mutations in the OCTN2 gene.
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Carnitine deficiency is a potential cause of metabolic crisis during periods of high energy demand or stress. Affected individuals have very low carnitine levels in blood, decreased carnitine transport in fibroblasts, and commonly have mutations in the OCTN2 gene.
Obstetrics and gynecology – Pubmed
Published: Sep 6, 2007
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