Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Human mutation - 1 Oct 2004
Iacobazzi Vito, Invernizzi Federica, Baratta Silvia, Pons Roser, Chung Wendy, Garavaglia Barbara, Dionisi-Vici Carlo, Ribes Antonia, Parini Rossella, Huertas Maria Dolores, Roldan Susana, Lauria Graziantonio, Palmieri Ferdinando, Taroni Franco
Abstract excerpt
The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria. CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy, liver failure, and muscle weakness. We report here the clinical, biochemical, and molecular features of six...
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