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Institute of Metabolic Disease at Baylor Research Institute
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A metabolic disease is a disorder caused by a problem with the accumulation of chemicals produced naturally in the body, many of which interfere with the ability to produce energy from protein, fats and carbohydrates in the diet. These diseases are usually serious, some even life-threatening, and others may slow down physical development or cause mental retardation.
The Institute of Metabolic Disease (IMD) at Baylor Research Institute was established to diagnose and study inherited metabolic disease. Since its creation, the IMD has developed outstanding clinical, research and educational programs and is now recognized as a world-renowned research institute in metabolic disease.
Among its accomplishments, the IMD has
• Identified and characterized five previously unknown diseases
• Devised new treatment protocols for patients with inherited metabolic diseases
The Institute of Medical Disease provides graduate and post graduate training for students worldwide.
New Clinical Tests offered by the IMD:
• Alpha-1-antitrypsin deficiency (AATD) Mutation detection
• EIF2B -Related Disorder - Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease (CACH/VWM) –
Mutation Analysis
• Fabry Disease DNA Analysis
• Free Sialic Acid Storage Disorder (SASD) DNA Analysis
• DNA Analysis for Diabetes type I by INS Gene Sequencing
• DNA Analysis for Familial Hypertrophic Cardiomyopathy/Wolff-Parkinson-White syndrome
by PRKAG2 Gene Sequencing
• Salla Common Mutation DNA Analysis
• Neurotransmitter testing
Please see our clinical test menu page for more information about our new tests
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