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Project

Inborn Errors of Metabolism Clinic

Center:
Fiscal Year:
2018
Contact Information:
Project Description:
updated with LW on 10/10/17 - The Inborn Errors of Metabolism (IEM) Team is part of the UTHSC Medical Genetics Regional Treatment Center, and helps families manage disorders that are treatable by diet and medication. With early detection and conscientious dietary management, the possibilities of coma, death, intellectual disability, or other disabilities in some IEM, can be reduced or eliminated. There are over 25 different IEM disorders currently being treated by the Memphis IEM team, with the most commonly seen being phenylketonuria (PKU), medium chain acyl-CoA dehydrogenase deficiency (MCADD), , urea cycle disorders (UCD), galactosemia (GAL), and maple syrup urine disease (MSUD). Others include other amino acid disorders, organic acid disorders, carbohydrate and fatty acid disorders.
Keyword(s):
Inborn Errors of Metabolism
Core Function(s):
Training Trainees, Performing Direct and/or Demonstration Services, Performing Research or Evaluation, Developing & Disseminating Information, Continuing Education/Community Training, Demonstration Services
Area of Emphasis
Quality Assurance, Education & Early Intervention, Health-Related Activities
Target Audience:
Students/Trainees (long or intermediate trainees), Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN
Unserved or Under-served Populations:
Racial or Ethnic Minorities, Disadvantaged Circumstances, Geographic Areas, Rural/Remote, Urban, Specific Groups
Primary Target Audience Geographic Descriptor:
Mulit-County, Regional
Funding Source:
COVID-19 Related Data:
N/A