CPT1A

stethoscope with map

Researchers Highlight Genotype-Phenotype Correlations in CPT1A

Researchers reported cases of carnitine palmitoyltransferase 1A (CPT1A) deficiency, a type of long-chain fatty acid oxidation disorder (LCFAOD), in 22 people of Micronesian descent and 3 of Niuean descent, and published their correlation findings in JIMD Reports. The patients from Micronesia did not show metabolic decompensation before diagnosis or during follow-up, while the patients from…

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