2.1.a

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 (Autosomal recessive intellectual disability type 14)
  • Mitochondrial malonyltransferase deficiency
  • Mitochondrial enoyl-CoA reductase deficiency (Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration – MEPAN)
  • Very long-chain fatty acid elongase 1 deficiency (Ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features – IKSHD)
  • Very long-chain fatty acid elongase 4 deficiency, neurologic phenotype (Pseudo-Sjögren-Larsson syndrome, recessive; spinocerebellar ataxia type 34, dominant)
  • Very long-chain fatty acid elongase 4 deficiency, retinal phenotype (Stargardt disease type 3)
  • Very long-chain fatty acid elongase 5 deficiency (Spinocerebellar ataxia type 38)
  • Long-chain fatty acid-CoA ligase 4 deficiency (X-linked intellectual disability type 63)
  • Fatty aldehyde dehydrogenase deficiency (Sjögren-Larsson syndrome)

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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