Items Tagged ‘metabolic disorders’

December 30, 2020

Physicians have new guidelines for managing rare genetic, metabolic disorders

By Susan Murphy Susan Murphy (@susanmurphy)

Physicians now have a blueprint for diagnosing and managing two specific rare inherited metabolic diseases within a group of nearly 150 congenital disorders of glycosylation. These diseases can cause serious and sometimes fatal malfunctions of several organs at or before birth, as well as chronic debilitating symptoms in adults.  The consensus guidelines were published in […]

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Tags: congenital disorders of glycosylation, metabolic disorders, rare disease


October 4, 2019 · Leave a Comment

Individualized diets help patients with inherited metabolic disorders

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Solving a puzzle to find the right diet and nutrition supplements to maintain health – that’s how Suzanne Boyer describes her role as a dietitian In the Inborn Errors of Metabolism Clinic within Mayo Clinic’s Department of Clinical Genomics. She works alongside physicians, geneticists and genetic counselors to develop individualized diet prescriptions for patients with […]

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Tags: #Dr. Brendan Lanpher, #individualized diets, #Mayo Clinic Department of Clinical Genomics, center for individualized medicine, Genetic Testing, genomics, individualized nutrition plans, inherited metabolic disorders, maple syrup urine disease, mayo clinic, Mayo Clinic Inborn Errors of Metabolism Clinic, metabolic disorders


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