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Clinical geneticist examining boy

Inherited Metabolic Disease Program

The ColumbiaDoctors Inherited Metabolic Disease Program is a comprehensive program designed to diagnose, manage and counsel patients with inherited metabolic disorders and their families.

Inherited metabolic disorders, also known as Inborn Errors of Metabolism (IEM), are a group of individually very rare disorders, but as a group common, that can affect patients of any age from the newborn period well into adulthood. Moreover, since the introduction of expanded newborn screening for IEM in the last 10 years, the number of patients diagnosed with these conditions has increased dramatically. Thus, the need for a dedicate team of health providers and ancillary personnel is critical.

Our multidisciplinary program offers all the necessary components for successfully care for these patients. The team includes a board certified biochemical geneticist, a biochemical geneticist, a specialized nurse practitioner, a metabolic dietitian and a social worker. We offer an in-house biochemical laboratory to perform very specialized tests that are necessary for the diagnosis and management of these patients.

In addition, a steady supply of special formulas (medical foods) and specialized medications are available. We provide service 24 hours a day, all year long. Therefore, patients and parents are assured that care will be provided uninterrupted even is if after hours, on a holiday or over the weekends. Due to the possibility of acute decompensations, it is critical to have coverage 24/7/365, and therefore, being able to provide it makes all the difference for the patients and their families.

List of Inherited Metabolic Conditions

  • Newborn Screening: amino acids, galactosemia, biotinidase deficiency, organic acidemias, fatty acid oxidation defects, Pompe disease, adrenoleukodystrophy (ALD), Krabbe disease, homocystinuria, tyrosinemia, urea cycle defects, maple syrup urine disease (MSUD), glutaric aciduria type 1, non-ketotic hyperglycinemia
  • Phenylketonuria (PKU) and related disorders
  • Maple Syrup Urine disease (MSUD)
  • Tyrosinemias
  • Organic Acidemias: glutaric aciduria type 1( GA1), propionic aciduria (PA), methylmalonic aciduria (MMA), isovaleric aciduria (IVA), 3-methyglutaconic aciduria (MGAs), 3-methylcrotonylglycinuria (MCC), ethylmalonic aciduria
  • Homocystinuria and related disorders
  • Urea Cycle Defects and related disorders: ornithine transcarbamylase deficiency (OTC), citrullinemia type 1, argininosuccinic aciduria, argininemia, HHH syndrome
  • Gyrate Atrophy of the Retina: ornithine aminotransferase deficiency (OAT)
  • Glycogen Storage Disorders (GSD): type 1 (von Gierke), Pompe disease (type 2), other liver and/or muscular types (muscle glycogenosis)
  • Galactosemia
  • Hereditary fructose Intolerance
  • Congenital Hyperinsulinism
  • Fructose-1,6-bisphothase deficiency
  • Fatty Acid Oxidation Defects: carnitine transport deficiency, primary carnitine deficiency, CPT II, SCAD, MCAD, LCAD, LCHAD
  • Mitochondrial Disorders: Leigh syndrome, Alpers syndrome, Leber’s disease, MELAS, MNGIE, mitochondrial depletion syndromes
  • Disorders of Lactate and Pyruvate metabolism: pyruvate dehydrogenase deficiency (PDH), pyruvate carboxylase deficiency (PC)
  • Lysosomal Disorders: Fabry disease, Niemann-Pick disease, Gaucher disease, neuronal ceroid lipofuscinosis, oligosaccharidosis, cholesteryl ester storage disease
  • Mucopolysaccharidosis (MPS): Hurler disease, Hunter disease, Sanfilippo disease, Morquio disease, other
  • Peroxisomal disorders: Adrenoleukodystrophy (ALD)
  • Disorders of Glycosylation and deglycosylation (NGLY1)
  • Krabbe disease
  • Neurometabolic disorders: neurotransmitters
  • Purine metabolism: Lesch-Nyhan disease
  • Vitamin Metabolism disorders: cobalamin disorders, folate metabolism, pyridoxine metabolism, biotin metabolism
  • Disorders of iron metabolism: hereditary hemochromatosis
  • Disorders of lipid metabolism: Lipoprotein lipase deficiency