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Metabolic Disorders Clinic

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Overview

We are 1 of 6 regional metabolic centers designated by the Ohio Department of Health for referral, management and treatment of infants identified with abnormal newborn screens. Metabolic disorders affect the way the body uses food (protein, carbs and fats) and converts it into energy or fuel.

Specialized care.

We specialize in the diagnosis, treatment and management of metabolic disorders in infants, children and adults. Most metabolic disorders are caused by genetic mutations that result in missing or dysfunctional enzymes that are needed for the cell to perform metabolic processes. 

Genetic disorders affecting body metabolism often have specific treatments requiring special diets and/or medications. Some disorders, such as PKU, may be diagnosed by routine newborn screening, while others require specialized testing to establish a diagnosis and initiate treatment.

Prognosis and treatment vary, depending on the type and severity of the disorder.  Our team will help you navigate the treatment path for you or your child's metabolic disorder.

Types of metabolic disorders.

There are hundreds of different inherited metabolic disorders. Some of the more common ones include:

  • Lysosomal storage disorders - Lysosomes are spaces inside cells that break down waste products of metabolism. Various enzyme deficiencies inside lysosomes can result in buildup of toxic substances, causing metabolic disorders such as Hurler syndrome, Niemann-Pick disease and Tay-Sachs disease.
     
  • Galactosemia - Impaired breakdown of the sugar galactose leads to jaundice, vomiting, and liver enlargement after breast or formula feeding by a newborn.
     
  • Maple syrup urine disease - Deficiency of an enzyme called BCKD causes buildup of amino acids in the body. Nerve damage results, and the urine smells like syrup.
     
  • Phenylketonuria (PKU) - Deficiency of the enzyme PAH results in high levels of phenylalanine in the blood. Mental retardation results if the condition is not recognized.
     
  • Glycogen storage diseases - Problems with sugar storage lead to low blood sugar levels, muscle pain and weakness.
     
  • Mitochondrial disorders - Problems inside mitochondria, the powerhouses of cells, lead to muscle damage.
     
  • Friedreich ataxia - Problems related to a protein called frataxin cause nerve damage and often heart problems. Inability to walk usually results by young adulthood.
     
  • Peroxisomal disorders - Similar to lysosomes, peroxisomes are tiny spaces filled with enzymes inside cells. Poor enzyme function inside peroxisomes can lead to buildup of toxic products of metabolism. Peroxisomal disorders include Zellweger syndrome and  adrenoleukodystrophy.
     
  • Metal metabolism disorders - Levels of trace metals in the blood are controlled by special proteins. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body, such as Wilson disease and hemochromatosis.
     
  • Organic acidemias - Inability to properly break down certain components of protein for energy, growth and development. Since the body cannot properly break down these amino acids, certain organic acids build up in the blood and urine. High levels of certain organic acids can cause serious health problems. 
     
  • Urea cycle disorders - Nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death.

Locations/Contact Us

Contact Metabolic Disorders Clinic

330-543-8792

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Genetic Center
Akron Children's Hospital
Locust Professional Building
300 Locust St.
Suite 500
Akron, Ohio 44302
Fax: 330-543-3677
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Our Doctors/Providers

Carrie Costin
Carrie Costin, MD

Clinical Geneticist

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