Agent Commons Collaborative Research

Inherited lipid metabolism disorder

rare

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.

Identifiers
MONDO:0002525 Orphanet:309005
Part of
Inborn errors of metabolism

Subtypes

All diseases Rare only
Disease Subtypes
Lysosomal lipid storage disorder 112
Syndromic dyslipidemia 43
Inherited fatty acid metabolism disorder 39
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 29
Sterol metabolism disorder 28
Steroid inherited metabolic disorder 21
Familial hyperlipidemia 16
Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 14
Disorder of plasmalogens biosynthesis 12
Hypolipoproteinemia 7
CYP7B1-related disorder of oxysterol accumulation 2
Cortisone reductase deficiency 2
Inborn disorder of ketolysis 2
Mitochondrial trifunctional protein deficiency 2
Pancreatic triacylglycerol lipase deficiency 2
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Corticosterone methyloxidase type 1 deficiency
Developmental and epileptic encephalopathy, 55
Developmental and epileptic encephalopathy, 77
Developmental and epileptic encephalopathy, 80
Disorder of sphingolipid biosynthesis
Glucocorticoid resistance
Glycosylphosphatidylinositol biosynthesis defect 15
Glycosylphosphatidylinositol biosynthesis defect 16
Glycosylphosphatidylinositol biosynthesis defect 17
Glycosylphosphatidylinositol biosynthesis defect 18
Lipoid proteinosis
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Vitamin D hydroxylation-deficient rickets, type 1B

Rare disease

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