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Discover the conditions we treat at Children's National Hospital. Providers at Children's National work with you and your family to decide on the best care plan for your child.

Genetic Syndromes

Metabolic Diseases

  • Abnormal newborn screening results
  • Biotinidase deficiency
  • Fatty acid oxidation disorders (MCAD, VLCAD, LCHAD)
  • Galactosemia
  • Lysosomal storage disorders, including enzyme replacement therapy patients
  • Maple syrup urine disease
  • Mitochondrial disorders
  • Organic acidemias (propionic acidemia, methylmalonic acidemia or aciduria)
  • PKU (phenylketonuria)
  • Urea cycle disorders (OTC, CPS, citrullinemia, arginase deficiency, HHH)