Article

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China：A case report and literature review

2020-11-09

Abstract excerpt

<h4>Background: </h4> ： Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. It is caused by mutation in CPT1A . To date, only two symptomatic cases of CPT1A deficiency have been reported in China. Case presentation: A newborn male, without any disease-related clinical manifestations, wa...

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Literature Corpus work: a07f2c45-ef5e-5b0a-9d84-f1b24fb41ea7
DOI: 10.21203/rs.3.rs-99431/v1

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