LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 38 ❚ APPENDIX INBORN ERRORS OF METABOLISM • Disorders of aminoacid and peptide metabolism: Phenylketonuria including the management in pregnancy, homocystinuria, MSUD, etc) • Disorders of organic acid metabolism (propionic acidaemia, methylmalonic acidaemia, etc) • Hyperammonaemia and urea cycle disorders including transporter defects (triple-H, lysinuric protein intolerance) • Disorders of carbohydrate metabolism including transport (GLUT-1, GLUT-2 etc…) (Glycogen storage disease, galactosaemia, fructosaemia, etc) • Disorders of fatty acid oxidation • Disorders of ketone body metabolism • Lysosomal storage disorders • Disorders of lipoproteins and lipid metabolism • Peroxisomal disorders • Disorders of purine and pyrimidine metabolism • Disorders of calcium metabolism • Disorders of metal metabolism (Wilson’s disease, Menkes syndrome,etc) • Respiratory Chain Defects and Congenital lactic acidoses (PDH, PC, TCA defects) • Porphyrias • Disorders of cholesterol, sterol and bile acid metabolism • Disorders of vitamin metabolism (biotin, cobalamin,etc) • Defects of membrane transport (lysinuric protein intolerance, etc) • Defects of glycosylation • Defects of creatine synthesis and transport • Defects of neurotransmitter synthesis and metabolism • Defects of phospholipid and sphingolipid synthesis • Defects of connective tissue