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. 2004 Apr 15;126A(2):150-5.
doi: 10.1002/ajmg.a.20573.

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation

Vito Iacobazzi  1 , Marzia Pasquali, Rani Singh, Dietrich Matern, Piero Rinaldo, Cristina Amat di San Filippo, Ferdinando Palmieri, Nicola Longo
Affiliations

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation

Vito Iacobazzi et al. Am J Med Genet A. .

Abstract

Deficiency of carnitine/acylcarnitine translocase (CACT) is an autosomal recessive disorder of the carnitine cycle resulting in the inability to transfer fatty acids across the inner mitochondrial membrane. Only a limited number of affected patients have been reported and the effect of therapy on this condition is still not well defined. Here, we report a new patient with this disorder and follow the response to therapy. Our patient was the product of a consanguineous marriage. He presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe non-ketotic hypoglycemia. Initial metabolic studies indicated severe non-ketotic C6-C10 dicarboxylic aciduria, plasma carnitine deficiency, and a characteristic elevation of plasma C:16:0, C18:1, and C18:2 acylcarnitine species. Enzyme assay confirmed deficiency of CACT activity. Molecular studies indicated that this child was homozygous, and both parents heterozygous, for a single bp change converting glutamine 238 to arginine (Q238R). Therapy with a formula providing most of the fat via medium chain triglycerides (MCT) and carnitine supplementation reduced the concentration of long-chain acylcarnitines and reversed cardiac symptoms and the hypoglycemia. These results suggest that carnitine and MCT may be effective in treating this defect of long-chain fatty acid oxidation.

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