Conditions Treated

We treat a wide range of metabolic conditions, including:

  • Diseases of lipid metabolism, such as MCAD (medium-chain acyl-coenzyme A dehydrogenase) deficiency
  • Disorders of amino acid metabolism, such as PKU (phenylketonuria)
  • Disorders of cholesterol and lipid metabolism, such as Tay-Sachs disease or Fabry disease
  • Disorders of organic acid metabolism, such as propionic acidemia and methylmalonic acidemia
  • Glycogen storage disorders, such as von Gierke disease or glycogenosis I