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    Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

    Summary: Carnitine-acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. The neonatal phenotype of CACT deficiency is characterized by hypoketotic hypoglycaemia, hyperammonaemia, c...

    D. Galron, O. S. Birk, A. Kazanovitz, S. W. Moses… in Journal of Inherited Metabolic Disease (2004)