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Lipid Metabolism, Inborn Errors
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Definition
: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
coordinate IM with specific lipid /metab (IM); DF: LIPID METAB INBORN ERR
Examples
Barth Syndrome
;
Hyperlipidemia, Familial Combined
;
Hyperlipoproteinemia Type I
;
Hyperlipoproteinemia Type II
;
Hyperlipoproteinemia Type III
;
Hyperlipoproteinemia Type IV
;
Hyperlipoproteinemia Type V
;
Hypolipoproteinemias
;
Lipidoses
;
Lipodystrophy, Congenital Generalized
;
Smith-Lemli-Opitz Syndrome
;
Xanthomatosis, Cerebrotendinous
Other names
Lipid Metabolism, Inborn Error
Substance
CAS Registry & name
Categories
Source
Short chain Acyl CoA dehydrogenase deficiency
0
*Lipid Metabolism, Inborn Errors
Acyl-CoA Dehydrogenase/deficiency.
Sitosterolemia
0
*Hypercholesterolemia
*Intestinal Diseases
*Lipid Metabolism, Inborn Errors
Phytosterols/adverse effects.
Peroxisomal ACYL-
COA oxidase deficiency
0
*Adrenoleukodystrophy
*Lipid Metabolism, Inborn Errors
Acyl-CoA Oxidase/deficiency.
Triglyceride storage disease with impaired long-
chain fatty acid oxidation
0
*Lipid Metabolism, Inborn Errors
*Muscular Diseases
*Ichthyosiform Erythroderma, Congenital.
VLCAD deficiency
0
*Lipid Metabolism, Inborn Errors
*Muscular Diseases
*Mitochondrial Diseases
Acyl-CoA Dehydrogenase, Long-Chain/deficiency.
Hydroxyacyl-
coa dehydrogenase, type 2, deficiency
0
*Lipid Metabolism, Inborn Errors
Acetyl-CoA C-Acetyltransferase/deficiency.
Medium chain acyl CoA dehydrogenase deficiency
0
*Lipid Metabolism, Inborn Errors
Acyl-CoA Dehydrogenase/deficiency.
Cytosolic acetoacetyl-
CoA thiolase deficiency
0
*Lipid Metabolism, Inborn Errors
Acetyl-CoA C-Acetyltransferase/deficiency.
Lipase deficiency combined
0
*Lipid Metabolism, Inborn Errors
Lipoprotein Lipase/deficiency.
Long-
chain acyl-
CoA dehydrogenase deficiency
0
*Lipid Metabolism, Inborn Errors
Acyl-CoA Dehydrogenase, Long-Chain/deficiency.
Carnitine palmitoyl transferase 1A deficiency
0
*Hypoglycemia
*Lipid Metabolism, Inborn Errors
Carnitine O-Palmitoyltransferase/deficiency.
