2.1
Disorders of lipid metabolism
Disorders which are included in lipid metabolism category affect the metabolism of fatty acids, glycerolipids, glycerophospholipids, sphingolipids, and sterol lipids. They are characterized by abnormal synthesis, breakdown, digestion, absorption and transport of lipids in the body. Such disruptions can lead to either excessive accumulation or insufficient levels of lipids in various tissues, ultimately impacting essential bodily functions.
Cytosolic acetyl-CoA carboxylase 1 deficiency Mitochondrial acetyl-CoA carboxylase 2 deficiency…
X-linked adrenoleukodystrophy Peroxisomal straight-chain acyl-CoA oxidase deficiency (Pseudo-neonatal adrenoleukodystrophy) D-bifunctional…
Cytosolic phospholipase A2 alpha deficiency (Cryptogenic multifocal ulcerating stenosing enteritis…
Lysophosphatidic acid acyltransferase deficiency (Congenital generalized lipodystrophy type 1, Berardinelli-Seip syndrome)…
Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism Ethanolaminephosphotransferase 1 deficiency…
Serine palmitoyltransferase subunit 1 deficiency (Hereditary sensory and autonomic neuropathy…
Mevalonate kinase deficiency (Mevalonic aciduria, severe; hyper-IgD syndrome, milder) Mevalonate…
Cholesterol 7-alpha-hydroxylase deficiency 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency (Congenital bile acid synthesis…
Subnetworks
PD
Peroxisomal and lipid-related disorders
