inherited lipid metabolism disorder
MONDO:0002525Mondo
Findings
No curated finding names inherited lipid metabolism disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.
Definition from the Mondo Disease Ontology (MONDO:0002525), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (29)
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- corticosterone methyloxidase type 1 deficiency
- cortisone reductase deficiency
- CYP7B1-related disorder of oxysterol accumulation
- developmental and epileptic encephalopathy, 55
- developmental and epileptic encephalopathy, 77
- developmental and epileptic encephalopathy, 80
- disorder of phospholipids, sphingolipids and fatty acids biosynthesis
- disorder of plasmalogens biosynthesis
- disorder of sphingolipid biosynthesis
- familial hyperlipidemia
- glucocorticoid resistance
- glycosylphosphatidylinositol biosynthesis defect 15
- glycosylphosphatidylinositol biosynthesis defect 16
- glycosylphosphatidylinositol biosynthesis defect 17
- glycosylphosphatidylinositol biosynthesis defect 18
- hypolipoproteinemia
- inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- inborn disorder of ketolysis
- inherited fatty acid metabolism disorder
- lipoid proteinosis
- lysosomal lipid storage disorder
- mitochondrial trifunctional protein deficiency
- neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- pancreatic triacylglycerol lipase deficiency
- steroid inherited metabolic disorder
- sterol metabolism disorder
- syndromic dyslipidemia
- vitamin D hydroxylation-deficient rickets, type 1B