1.4.b

Disorders of mitochondrial fatty acid oxidation

  • Short-chain acyl-CoA dehydrogenase deficiency
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Familial hyperinsulinemic hypoglycemia type 4)
  • Trifunctional protein subunit alpha deficiency (Long-chain hydroxyacyl-CoA dehydrogenase or complete mitochondrial trifunctional protein deficiency)
  • Trifunctional protein subunit beta deficiency (Complete mitochondrial trifunctional protein deficiency)
  • Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency (Complete mitochondrial trifunctional protein deficiency)
  • Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
  • Electron transfer flavoprotein subunit alpha deficiency (Glutaric acidemia type 2A; multiple acyl-CoA dehydrogenase deficiency type 2A)
  • Electron transfer flavoprotein subunit beta deficiency (Glutaric acidemia type 2B; multiple acyl-CoA dehydrogenase deficiency type 2B)
  • Electron transfer flavoprotein dehydrogenase deficiency (Glutaric acidemia type 2C; multiple acyl-CoA dehydrogenase deficiency type 2C)
  • Long-chain fatty acid plasma membrane transporter deficiency

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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