Inherited lipoic acid biosynthesis defect
MONDO:0018424An 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
51 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Pyruvate dehydrogenase E3 deficiency
(1)
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
(0)
Fatal multiple mitochondrial dysfunctions syndrome
(0)
Lipoic acid synthetase deficiency
(0)
Lipoyl transferase 1 deficiency
(0)
Multiple mitochondrial dysfunctions syndrome 1
(0)
Multiple mitochondrial dysfunctions syndrome 10
(0)
Multiple mitochondrial dysfunctions syndrome 2
(0)
Multiple mitochondrial dysfunctions syndrome 3
(0)
Multiple mitochondrial dysfunctions syndrome 4
(0)
Multiple mitochondrial dysfunctions syndrome 5
(0)
Multiple mitochondrial dysfunctions syndrome 6
(0)
Multiple mitochondrial dysfunctions syndrome 7
(0)
Multiple mitochondrial dysfunctions syndrome 9b
(0)
Spasticity-ataxia-gait anomalies syndrome
(0)
Broader categories
Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inherited lipid metabolism disorder
(165)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Inherited fatty acid metabolism disorder
(6)