SNP information rs2229738
Normal allele: CC
Carnitine palmitoyltransferase deficiency is an impairment in the oxidation of long-chain fatty acids. People with this breakdown need a high-carbohydrate, low-fat diet to ensure a steady supply of carbohydrate energy and medium chain length triglycerides. Also, individuals with CPT1A deficiency should have liver enzymes (AST, ALT, alkaline phosphatase) and liver function tests (including PV and ACEI) at clinic visits, even in the absence of symptoms, and during periods of reduced caloric intake and fever.
Polymorphism rs2229738 is related to topics like this:
A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...
Research and publications:
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