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Inborn Errors of Metabolism Research
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Scientists at Children's use three dimensional models of protein structures, like this one showing N-acetyl-glutamate-synthase (NAGS) enzyme, which plays a key role in the efficiency of a biological process called the urea cycle.
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Inborn errors of metabolism are a large group of genetic diseases that cause serious problems in the way the body converts one substance (such as carbohydrates) into another (such as sugar). Most are caused by the defect of a single gene that is responsible for a specific enzyme. When metabolism goes wrong, toxic substances can build up in the body. Scientists at the Center for Genetic Medicine Research and the Center for Clinical and Community Research are part of a large national research effort that is investigating breakdowns of an especially critical part of metabolism, the urea cycle.
Scientists actively research
- Ornithine transcarbamylase deficiency
- N-acetylglutamate synthase deficiency
- Neurogenetics of amino acid disorders
- Neuroimaging of urea cycle disorders
Faculty who study inborn errors of metabolism
Hiroki Morizono, PhD, creates three dimensional renderings of protein structures including this hexameric NAGS enzyme, to more accurately depict how the enzyme reacts to the presence of the amino acid arginine.
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Related links
- Children’s clinical division of Genetics and Metabolism
- National Organization for Rare Disorders (NORD) Nonprofit group of voluntary health organizations serving people with rare disorders and disabilities. Dedicated to the identification, treatment, and cure of rare disorders through education, advocacy, research, and service.
- National Urea Cycle Disorders Foundation Provides information and support for families. Supports and stimulates medical research and increased awareness by the public and the legislators of issues related to urea cycle disorders.
- Urea Cycle Disorders Consortium A group of healthcare professionals and researchers dedicated to improving the lives of patients with urea cycle disorders.
For more information, contact Mendel Tuchman, MD.
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