Carnitine Palmitoyltransferase 1 deficiency in the Canadian Aboriginal population.

摘要

Carnitine Palmitoyltransferase 1 (CPT1) controls the transfer of long chain fatty acids (LCFAs) across the outer mitochondrial membrane. Carnitine Palmitoyltransferase 2 (CPT2) facilitates passage of LCFAs across the inner mitochondrial membrane for subsequent beta-oxidation. Any deficiency in the activity of CPT1 may result in an inability to metabolize LCFAs, and lowered energy production, resulting in low blood sugar, liver, muscle, and/or brain damage.;A neonate with transient hypoglycemia was tested for fatty acid oxidation disorders, and was found to have absent CPTIA enzyme activity in fibroblasts, homozygosity for a mutation in CPT1A (P479L), and normal CPT2 activity. The child was diagnosed with CPT1A deficiency. Second and third children of this kindred have had episodes of hypoketotic hypoglycemia, are homozygous for P479L, have near zero CPT1A activity, and are homozygous for a mutation in CPT2 (F352C). A fourth child is also homozygous for both mutations with no discernible phenotype at this time. (Abstract shortened by UMI.).