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Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.1 Disorders of fatty acyl synthesis, elongation, and recycling
Cytosolic acetyl-CoA carboxylase 1 deficiency
Mitochondrial acetyl-CoA carboxylase 2 deficiency
3-Hydroxyacyl-CoA dehydratase 1 deficiency
Trans-2,3-enoyl-CoA reductase deficiency
Mitochondrial malonyltransferase deficiency
Mitochondrial enoyl-CoA reductase deficiency
Very long-chain fatty acid elongase 1 deficiency
Very long-chain fatty acid elongase 4 deficiency
Very long-chain fatty acid elongase 5 deficiency
Long-chain fatty acid-CoA ligase 4 deficiency
Long-chain fatty acid-CoA ligase 5 deficiency
Fatty aldehyde dehydrogenase deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
OnlineIMD
Home
Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.1 Disorders of fatty acyl synthesis, elongation, and recycling
Cytosolic acetyl-CoA carboxylase 1 deficiency
Mitochondrial acetyl-CoA carboxylase 2 deficiency
3-Hydroxyacyl-CoA dehydratase 1 deficiency
Trans-2,3-enoyl-CoA reductase deficiency
Mitochondrial malonyltransferase deficiency
Mitochondrial enoyl-CoA reductase deficiency
Very long-chain fatty acid elongase 1 deficiency
Very long-chain fatty acid elongase 4 deficiency
Very long-chain fatty acid elongase 5 deficiency
Long-chain fatty acid-CoA ligase 4 deficiency
Long-chain fatty acid-CoA ligase 5 deficiency
Fatty aldehyde dehydrogenase deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Mitochondrial acetyl-CoA carboxylase 2 deficiency
Type
Disease
External link(s)
IEMbase
Gene
ACACB
/ acetyl-CoA carboxylase beta
12q24.11
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Acetyl-CoA carboxylase beta
Disease group(s)
14.1 Disorders of fatty acyl synthesis, elongation, and recycling