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)