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Inherited lipoic acid biosynthesis defect

MONDO:0018424

An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.

Also known as: inborn error of lipoate biosynthetic process, inborn lipoate biosynthetic process disorder, lipoate biosynthesis defect, rare inborn error of lipoate biosynthetic process, lipoic acid biosynthesis defect, lipoic acid biosynthesis defects

15 clinical trials for this condition and its sub-types, 0 tagged with Inherited lipoic acid biosynthesis defect itself.

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Part of

↑ Disorder of organic acid metabolism (154) ↑ Inborn mitochondrial metabolism disorder (127) ↑ Inherited fatty acid metabolism disorder (21) ↑ Sulfur metabolism disease (14)

Sub-types of Inherited lipoic acid biosynthesis defect

Pyruvate dehydrogenase E3 deficiency 1 trial
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
Fatal multiple mitochondrial dysfunctions syndrome 0 trials
9 sub-types
- Multiple mitochondrial dysfunctions syndrome 1 0 trials
- Multiple mitochondrial dysfunctions syndrome 10 0 trials
- Multiple mitochondrial dysfunctions syndrome 2 0 trials
- Multiple mitochondrial dysfunctions syndrome 3 0 trials
- Multiple mitochondrial dysfunctions syndrome 4 0 trials
- Multiple mitochondrial dysfunctions syndrome 5 0 trials
- Multiple mitochondrial dysfunctions syndrome 6 0 trials
- Multiple mitochondrial dysfunctions syndrome 7 0 trials
- Multiple mitochondrial dysfunctions syndrome 9b 0 trials
Lipoic acid synthetase deficiency 0 trials
Lipoyl transferase 1 deficiency 0 trials
Spasticity-ataxia-gait anomalies syndrome 0 trials

Including sub-types (15) Tagged with Inherited lipoic acid biosynthesis defect (0)

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