OnlineIMD

14.5.1    Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism

  • Type
    Group
  • Disease group(s)
    • 14.5    Disorders of glycerophospholipid metabolism
  • Child entries
    • Ethanolaminephosphotransferase 1 deficiency
    • Choline transporter-like protein 1 deficiency
    • Lipin 1 deficiency
    • Choline kinase alpha deficiency
    • Choline kinase beta deficiency
    • Lipin 2 deficiency
    • Phosphocholine cytidylyltransferase 1 alpha deficiency, retinoskeletal phenotype
    • Phosphocholine cytidylyltransferase 2 deficiency
    • PTDSS1-related disease
    • Phosphatidylserine flippase deficiency
    • Phospholipid transporter ATPase 11A deficiency
    • Phospholipid transporter ATPase 11C deficiency
    • Lysophosphatidylinositol acyltransferase 1 deficiency
    • Phospholipase A2 group 6 deficiency
    • DDHD1 deficiency
    • DDHD2 deficiency
    • PNPLA6 deficiency
    • ABHD16A deficiency
    • ABHD12 deficiency
    • CYP2U1 deficiency
    • Diacylglycerol kinase epsilon deficiency
    • Lipase H deficiency
    • Lysophosphatidic acid receptor 6 deficiency
    • Lysophosphatidylcholine-esterified long-chain fatty acid transporter deficiency
    • Fatty acid amide hydrolase 2 deficiency
    • Scott syndrome