Defects in SLC25A20 are the cause of carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]. It is an autosomal recessive deficiency in mitochondrial oxidation of fatty acids. It is usually lethal within a few hours or days after birth. Symptoms characterizing its normally severe clinical phenotype include fatty hepatomegaly with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma, which eventually lead to death.
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Defects in SLC25A20 are the cause of carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]. It is an autosomal recessive deficiency in mitochondrial oxidation of fatty acids. It is usually lethal within a few hours or days after birth. Symptoms characterizing its normally severe clinical phenotype include fatty hepatomegaly with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma, which eventually lead to death.
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