Article

Primary carnitine deficiency – diagnosis after heart transplantation: Better late than never!

2020-03-16

Abstract excerpt

<title>Abstract</title> <p>Background Primary carnitine deficiency due to mutations in the OCTN2 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. Results We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sist...

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Literature Corpus work: d260d45b-edef-52f7-b38f-fa6ba5aa8602
DOI: 10.21203/rs.2.22019/v2

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