General Information of Disease (ID: DIS5L41Q)

Disease Name Inherited lipoic acid biosynthesis defect
Synonyms
lipoic acid biosynthesis defects; lipoic acid biosynthesis defect; lipoate biosynthesis defect; inborn lipoate biosynthetic process disorder; inborn error of lipoate biosynthetic process; rare inborn error of lipoate biosynthetic process
Definition An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.
Disease Hierarchy
DISP5E0H: Inborn mitochondrial metabolism disorder
DISOT51Y: Inherited fatty acid metabolism disorder
DISO5FAY: Inborn error of metabolism
DISTVTFI: Disorder of organic acid metabolism
DIS26UGB: Sulfur metabolism disease
DIS5L41Q: Inherited lipoic acid biosynthesis defect
Disease Identifiers
MONDO ID
MONDO_0018424
UMLS CUI
C5680006
MedGen ID
1843250
Orphanet ID
401854