carnitine-acylcarnitine translocase deficiency

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carnitine-acylcarnitine translocase deficiency2016-11-25T03:33:12+00:00

carnitine-acylcarnitine translocase deficiency

METABOLISM

Definition An autosomal recessive defect (OMIM:212138) of mitochondrial oxidation of fatty acids, which is characterised by fatty liver with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma, leading to death, typically shortly after birth.

Molecular pathology Defects in SLC25A20, which encodes a mitochondrial-membrane carrier protein involved in the fatty acid oxidation, cause carnitine-acylcarnitine translocase deficiency.

Synonym CACT deficiency

References http://www.uniprot.org/uniprot/O43772

http://www.omim.org/entry/212138

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