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Lipoyl transferase 1 deficiency

MONDO:0014576

Also known as: LIPT1D, lipoyltransferase 1 deficiency

14 clinical trials for this condition and its sub-types, 0 tagged with Lipoyl transferase 1 deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inherited lipoic acid biosynthesis defect (1)

Including sub-types (14) Tagged with Lipoyl transferase 1 deficiency (0)

Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1

New DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC