Neurogenetic–Neurometabolic Abnormalities

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

What is 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: 6/12/2018 10:15:29 AM

Upcoming Events

Communication and Feeding Difficulties in Children with Autism Spectrum Disorders (ASD)

This class is offered to parents and caregivers of children diagnosed with Autism Spectrum Disorders.

Learn more and register

Epilepsy Exchange

Join us for a Facebook Live event! The webinar will explore epilepsy treatment options including medications, surgeries and therapies, provide advice on how to choose a course of treatment and will include a live Q&A session. Join Patricia Dean, Aileen Marie Rodriguez, Drs. Ian Miller and Marytery Fajardo.

Learn more and register

From the Newsdesk

Get your FREE Water Watcher Card here!
06/29/2018 — Prevent drowning and accidents when children are near water by assigning a responsible adult to wear a Water Watcher Badge. The badge wearer takes responsibility to supervise the children until hading off to the next water watcher. Available at selected urgent care centers while supplies last.
Daniella Celebrates her Ninth Birthday by Advocating for Children’s Health
06/26/2018 — On this very same day nine years ago, Daniella Alvarez was diagnosed Teratoid Rhabdoid Tumor (ATRT), a rare and aggressive type of brain cancer. The news came on June 26, 2009, her second birthday. Daniella endured years of brain surgeries, aggressive chemotherapies, radiation, imaging scans, multiple visits to intensive care at Nicklaus Children’s Hospital. She is now cancer free thanks to a pediatric clinical trial made possible through research funding.


Meet our March Patient of the Month, Theodore. Theodore was diagnosed with cleft palate, cleft lip and a heart problem when he was only 18 weeks old. After he was born, Theodore had to be admitted into the NICU to be able to perform the necessary surgeries for him to live a healthy life.