What are neurogenetic–neurometabolic abnormalities?

Also known as: neurogenetic disorders, neurometabolic disorders or inborn errors of metabolism.

Neurogenetic and neurometabolic abnormalities are disorders that affect how the brain (and/or other organs) function. They occur in young children of all ages, races and genders.

Neurogenetic disease is the umbrella term of chronic diseases which describe the brain abnormalities (function and structure) that occur following changes in the genes of the child, these cause certain brain cells to develop and function abnormally.

In the case of neurometabolic abnormalities; these disorders result from problems in the enzymes of the body’s cells which are either unable to either use foods to produce the energy the cell needs, or get rid of the breakdown products of the foods used.

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM