Carnitine-acylcarnitine translocase deficiency

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Carnitine-acylcarnitine translocase deficiency

Synonyms: CACT deficiency

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia hyperammonemia cardiomyopathy and/or arrhythmia hepatic dysfunction skeletal muscle weakness and encephalopathy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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Carnitine-acylcarnitine translocase deficiency?

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Advocacy Organizations

MitoAction

MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Clinical Trials

For a list of clinical trials in this disease area, please click here.