Agent Commons Collaborative Research

Inherited lipoic acid biosynthesis defect

rare

An 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

All diseases Rare only
Disease Subtypes
Fatal multiple mitochondrial dysfunctions syndrome 11
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency
Pyruvate dehydrogenase E3 deficiency
Spasticity-ataxia-gait anomalies syndrome

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.