Children's Hospital Colorado
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Genetics and Inherited Metabolic Diseases

Genetic and Metabolic Conditions We Treat in Children and Teens

Clinical genetics

  • Birth defects
  • Chromosomal abnormalities
  • Developmental delay
  • Fragile X syndrome
  • Genetic disorders (known or suspected), presenting in fetus, newborn, children and adult muscular disorders
  • Intrauterine teratogen exposure
  • Mental retardation

Inherited metabolic disorders

  • Amino acid disorders (PKU, HCU, MSUD)
  • Organic acid disorders (MMA, PA, cobalamin defects)
  • Disorders of carbohydrate metabolism (glycogen storage disorders, galactosemia, hereditary fructose intolerance)
  • Disorders of fatty acid oxidation (MCADD, LCHAD)
  • Urea cycle disorders
  • Lysosomal and peroxisomal storage disorders (Gaucher disease, Fabry's disease, and Zellweger disease
  • Mitochondrial disorders (MELAS, MERRF, cytochrome C oxidase deficiency)
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