Abstract
Carnitine palmitoyl transferase I (CPT I; OMIM: 255120) deficiency is an autosomal recessive disorder that impairs long-chain fatty acid transport into the mitochondria, subsequently leading to isolated elevations in free carnitine and a reduction in long chain fatty acids. CPT I deficient patients typically present with heart failure, hypotonia, hepatic abnormalities, and hypoketotic hypoglycemia during fasting periods. Although clinically similar to other long chain fatty acid oxidation disorders, CPT I deficiency was initially thought to have a unique metabolic derangement.
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