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Neurometabolic disorders are a group of conditions causing problems with both metabolism (how cells chemically break down nutrients to get energy) and brain function. We see children with known metabolic disorders that include neurological signs and symptoms, as well as children with developmental delays or known neurological problems that turn out, on further testing, to stem from metabolic disorders.
Neurometabolic disorders are complex, have many causes and can affect any organ in the body, often affecting two or more organ systems. They are generally rare and often poorly understood.
Boston Children’s Hospital’s Neurometabolic Program provides consultations and care for children with a wide variety of developmental, neurological and medical concerns.
Our care team consists of two physicians:
Together with genetic counselors and other specialists at Boston Children’s Hospital, our doctors work with families to provide a customized, comprehensive care plan for each child. This can include diagnostic testing, medical management and supports for children with developmental delays.
The umbrella of neurometabolic disorders covers a wide variety of conditions, including:
Many children being evaluated and cared for by our program at Boston Children's Hospital will not have one specific diagnosis, rather a variety of general medical and developmental symptoms that our team will help to diagnose and manage.
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