inherited lipoic acid biosynthesis defect

Findings

No curated finding names inherited lipoic acid biosynthesis defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• inborn mitochondrial metabolism disorder
• inherited fatty acid metabolism disorder
• sulfur metabolism disease

Narrower terms (6)

• dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
• fatal multiple mitochondrial dysfunctions syndrome
• lipoic acid synthetase deficiency
• lipoyl transferase 1 deficiency
• pyruvate dehydrogenase E3 deficiency
• spasticity-ataxia-gait anomalies syndrome

Resolves to: inherited lipoic acid biosynthesis defect

Also called

inborn error of lipoate biosynthetic processinborn lipoate biosynthetic process disorderlipoate biosynthesis defectrare inborn error of lipoate biosynthetic process