Neurogenetic–Neurometabolic Abnormalities

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

What are neurogenetic–neurometabolic abnormalities?

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.

What causes neurogenetic–neurometabolic abnormalities?

Neurogenetic and neurometabolic abnormalities are typically related to gene changes which may be inherited from an unaffected parent or from a new abnormality in the child's genes.

What are the symptoms of neurogenetic–neurometabolic abnormalities?

Children with neurogenetic disorders frequently present with difficult to control epilepsy, abnormal movements, slower motor and mental development and other neurological abnormalities. Neurometabolic disorders can affect many organs in the body and present in many different ways. Vomiting, dehydration, tiredness, lack of movement, seizures, enlarged organs (like the liver or spleen) are just a few of the ways they can present. When brain cells are affected children have a variety of neurological abnormalities which may result in slow loss of brain functions including the ability to walk or move.

What are neurogenetic–neurometabolic abnormalities care options?

Most neurogenetic–neurometabolic abnormalities cannot be cured. Instead, treatments are focused on the specific abnormality that occurs and where possible its therapy, and supportive measures to ensure the best quality of life possible for the child.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: February 14, 2019 10:21 AM

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