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Conditions We Treat

Inherited metabolic disorders are rare among the general population and may be misdiagnosed, as symptoms often mirror those associated with other conditions. The Inherited Metabolic Disorders Program provides diagnostic testing, evaluation and management for children with inborn errors of metabolism.

Our team follows individuals with:

  • 2-methylbutyrlglycinuria
  • 3-methylcrotonyl-CoA carboxylase deficiency
  • 3-methylglutaconic aciduria
  • 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPS)
  • Abetalipoproteinemia
  • Acrodermatitis enteropathica
  • Alpha mannosidosis
  • Arginase deficiency
  • Argininosuccinate lyase deficiency (ASA or ASL)
  • Beta-ketothiolase deficiency
  • Biotinidase deficiency
  • Carbamyl phosphate synthetase deficiency (CPS 1)
  • Carnitine palmitoyltransferase type 2 deficiency (CPT2)
  • Carnitine uptake deficiency
  • Citrullinemia (Argininosuccinic acid synthase deficiency)
  • Cobalamin disorders (A, C, and G)
  • Congenital glaucoma due to CYP1b1
  • Cystinuria
  • Dihydropteridine reductase deficiency
  • Duarte galactosemia
  • Fabry
  • Farber
  • Fructose1, 6-bisphosphatase deficiency
  • Fucosidosis
  • Galactose epimerase deficiency (GALE)
  • Galactosemia
  • Gaucher
  • Glutarate dehydrogenase deficiency
  • Glutaric acidemia, type 1 (GA-1)
  • Glutaric acidemia, type II
  • Glycerol kinase, DMD, congenital adrenal hypoplasia
  • Glycogen storage disorders
  • GM1 gangliosidosis
  • Gyrate atrophy
  • Hereditary fructose intolerance
  • HMG-CoA lyase deficiency
  • Holocarboxylase synthetase deficiency
  • Homocystinuria
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)
  • Hyperphenylalaninemia
  • Isobutyryl-CoA dehydrogenase deficiency
  • Isovaleric acidemia (IVA)
  • Kearns Sayre
  • Ketotic hypoglycemia
  • Lipoprotein lipase deficiency
  • Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  • Malonic aciduria
  • Maple syrup urine disease (MSUD)
  • MAT I/II deficiency
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • MELAS
  • Menkes
  • Met hemoglobin reductase deficiency
  • Methylmalonic acidemia (MMA)
  • Mitochondrial disorders
  • Mucolipidoses
  • Molybdenum Cofactor
  • Mucopolysaccharidoses
  • MTHFR deficiency
  • N-Acetylglutamate synthetase deficiency (NAGS)
  • Niemann-Pick A, B & C
  • Ornithine transcarbamylase deficiency (OTC)
  • Phenylketonuria (PKU)
  • Pompe
  • Propionic acidemia (PA)
  • Pyrroline-5-carboxylate synthase
  • Pyruvate dehydrogenase deficiency
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Sulfide oxidase deficiency
  • Torkleson syndrome
  • Transcobalamin deficiency
  • Trifunctional protein deficiency (TFP)
  • Trimethylaminuria
  • Tyrosinemia Type 1
  • Tyrosinemia Type 2
  • Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Contact Us

Learn how to schedule an appointment and discover general contact information about the Inherited Metabolic Disorders Program.