OnlineIMD

HADHB-related MTP deficiency

  • Synonym(s)
    • Trifunctional protein subunit beta deficiency
  • Type
    Disease
  • External link(s)
    • IEMbase
    • VMH
  • Gene
    • HADHB / Hydroxyacyl-CoA Dehydrogenase Bifunctional Type
      • 2p23.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Hydroxyacyl-CoA dehydrogenase, mitochondrial
  • Multimer
    • Mitochondrial trifunctional protein

  • Pathway
    • Carnitine metabolism and fatty acid oxidation
  • Parent entry
    • Mitochondrial trifunctional protein deficiency
  • Child entries
    • Long-chain ketoacyl-CoA thiolase deficiency