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Article

Rare case of primary carnitine deficiency presenting as acute liver failure.

BMJ case reports - 19 Jul 2022

Jain Shalu, Kumar Karunesh, Malhotra Smita, Sibal Anupam

Abstract excerpt

Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting. Though acute liver failure is...

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Identifiers

PMID: 35853679
DOI: 10.1136/bcr-2021-247225
PMCID: PMC9301812

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