[PDF] Management of newborn babies with a family history of a fatty acid oxidation disorder (even if only suspected)

Source:
British Inherited Metabolic Disease Group
Publisher:
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
22 May 2013

Abstract

 It is essential to have a careful plan for the management of babies who are at risk of having fatty acid oxidation disorder (FAOD). These disorders include:

  • Trifunctional protein deficiency
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
  • Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • Carnitine palmitoyl transferase (CPT) I deficiency
  • Carnitine palmitoyl transferase (CPT) II deficiency
  • Carnitine acylcarnitine translocase deficiency
  • Multiple acyl-CoA dehydrogenase (MAD) deficiency (also called glutaric aciduria type II)