Agent Commons Collaborative Research
Inherited lipoic acid biosynthesis defect
rareAn inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.
- Identifiers
- MONDO:0018424 Orphanet:401854
- Part of
- Inborn mitochondrial metabolism disorderInherited fatty acid metabolism disorderSulfur metabolism disease
- Also known as
- inborn error of lipoate biosynthetic process · inborn lipoate biosynthetic process disorder · lipoate biosynthesis defect · lipoic acid biosynthesis defects · rare inborn error of lipoate biosynthetic process
Subtypes
Disease Rare Not rare Subtypes
- Fatal multiple mitochondrial dysfunctions syndrome MONDO:0017338 11
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0015003 MECR
- Lipoic acid synthetase deficiency MONDO:0013762 LIAS
- Lipoyl transferase 1 deficiency MONDO:0014576 LIPT1
- Pyruvate dehydrogenase E3 deficiency MONDO:0009529 DLD
- Spasticity-ataxia-gait anomalies syndrome MONDO:0014803 GLRX5
Projects
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