Rare case of primary carnitine deficiency presenting as acute liver failure

Author:

Jain ShaluORCID,Kumar Karunesh,Malhotra Smita,Sibal Anupam

Abstract

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 infrequently described, young children presenting as acute liver failure should be screened for fatty acid oxidation defects including PCD by testing plasma for amino acids and further confirmed by genetic sequencing. Early identification and treatment using L-carnitine is lifesaving. Our patient presented as acute liver failure and diagnosis of PCD was confirmed by metabolic screening and genetic sequencing. He responded to the treatment.

Publisher

BMJ

Subject

General Medicine

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

2. Metabolic Myopathies in the Era of Next-Generation Sequencing;Genes;2023-04-22

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