Skip to main content Skip to navigation
We care about your privacy. Read about your rights and how we protect your data. Get Details

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

Gaucher

Met hemoglobin reductase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

Glutarate dehydrogenase deficiency

Methylmalonic acidemia (MMA)

3-methylglutaconic aciduria

Glutaric acidemia, type 1 (GA-1)

Mitochondrial disorders

6-pyruvoyl-tetrahydropterin synthase deficiency (PTPS)

Glutaric acidemia, type II

Mucolipidoses

Abetalipoproteinemia

Glycerol kinase, DMD, congenital adrenal hypoplasia

Molybdenum Cofactor

Acrodermatitis enteropathica

Glycogen storage disorders

Mucopolysaccharidoses

Alpha manosidosis

GM1 gangliosidosis

MTHFR deficiency

Arginase deficiency

Gyrate atrophy 

N-Acetylglutamate synthetase deficiency (NAGS)

Argininosuccinate lyase deficiency (ASA or ASL)

Hereditary fructose intolerance

Niemann-Pick A, B & C

Beta-ketothiolase deficiency

HMG-CoA lyase deficiency

Ornithine transcarbamylase deficiency (OTC)

Biotinidase deficiency

Holocarboxylase synthetase deficiency

Phenylketonuria (PKU)

Carbamyl phosphate synthatase deficiency (CPS 1)

Homocystinuria

Pompe

Carnitine palmitoyltransferase type 2 deficiency (CPT2)

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)

Propionic acidemia (PA)

Carnitine uptake deficiency

Hyperphenylalaninemia

Pyrroline-5-carboxylate synthase

Citrullinemia (Argininosuccinic acid synthase deficiency)

Isobutyryl-CoA deyhdrogenase deficiency

Pyruvate dehydrogenase deficiency

Cobalamin disorders (A, C, and G)

Isovaleric acidemia (IVA)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

Congenital glaucoma due to CYP1b1

Kearns Sayre

Sulfide oxidase deficiency

Cystinuria

Ketotic hypoglycemia

Torkleson syndrome

Dihydropteridine reductase deficiency

Lipoprotein lipase deficiency

Transcobalamin deficiency

Duarte galactosemia

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

Trifunctional protein deficiency (TFP)

Fabry

Malonic dciduria

Trimethylaminuria

Farber

Maple syrup urine disease (MSUD)

Tyrosinemia Type 1

Fructose1, 6-bisphosphatase deficiency

MAT I/II deficiency

Tyrosinemia Type 2

Fucosidosis

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Galactoepimerase deficiency (GALE)

MELAS


Galactosemia

Menkes


Contact Us

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