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In some affected children, both gene changes can be found However, in other children, neither or only one of the two gene changes can be found, even though we know they are present DNA testing is not necessary to diagnose CACT Deficiency Disorder, however, it can be helpful for carrier testing or prenatal diagnosis (Source: Carnitine-Acylcarnitine Translocase Deficiency

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British Journal of Pharmacology and Chemotherapy

Transplantation 103 , 392400 (2019)

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