Carnitine-acylcarnitine translocase deficiency

MONDO:0008918

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.

Also known as: CACT deficiency, carnitine-acylcarnitine translocase deficiency, CACTD, CARNITINE-acylcarnitine translocase deficiency, Cact deficiency

3 clinical trials for this condition and its sub-types, 3 tagged with Carnitine-acylcarnitine translocase deficiency itself.

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Where it sits in the disease tree

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↑ Disorder of fatty acid oxidation and ketogenesis (16) ↑ Disorder of carnitine cycle and carnitine transport (4)

Including sub-types (3) Tagged with Carnitine-acylcarnitine translocase deficiency (3)

Trials to join now! 1 Not yet finished but already full! 2

New hope for rare metabolic disease patients: expanded access to triheptanoin

Disease control Expanded access

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source for the body…

Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control

Last updated Aug 02, 2026 00:00 UTC

Carnitine-acylcarnitine translocase deficiency

Where it sits in the disease tree

New hope for rare metabolic disease patients: expanded access to triheptanoin