Science Saturday: Physicians have new guidelines for managing rare genetic, metabolic disorders


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 the Journal of Inherited Metabolic Disease by a team of international experts with the Frontiers in Congenital Disorders of Glycosylation Consortium. This consortium is led by Eva Morava-Kozicz, M.D., Ph.D., a physician scientist in Mayo Clinic’s Department of Clinical Genomics.

Dr. Morava-Kozicz conducts translational research in congenital disorders of glycosylation and mitochondrial disorders, and is developing dietary therapies in genetic disorders.

“We aim to continue establishing more guidelines for the diagnosis and treatment of different metabolic disorders types,” says Dr. Morava-Kozicz. “Our goal is to expand the available knowledge for anyone who meets our patients and unify optimal care.”

Congenital disorders of glycosylation is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders affecting several steps of the pathway involved in the glycosylation of proteins. They typically present as multisystemic disorders with a broad clinical spectrum, including, but not limited to, developmental delay, an abnormally low level of muscle tone, abnormal brain development, heart and liver manifestations, and hemorrhaging or clotting disorders.

Read the rest of the article on Advancing the Science.


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