Neurometabolic diseases in the newborn.
This article is designed to be a basic introduction to neurometabolic diseases (ie, inheritable inborn errors of metabolism, genetic disorders of developmental neural topography, and degenerative disorders of neural function) that present in the neonate. It is intended to assist those who provide primary care for newborns to help them recognize signs and symptoms that signify neurometabolic disease; to teach how and when to initiate a neurometabolic diagnostic sequence; and to help neurologists and pediatricians interface with geneticists and metabolists. This article is intended to inform general newborn care practitioners, not metabolists. Therefore, pathways and concepts are presented in a simplified manner for deliberate educational purposes.
Filiano
James J
JJ
Department of Pediatric Medicine, Dartmouth Medical School Children's Hospital at Dartmouth Hitchcock Medical Center, Lebanon, NH 03756-0001, USA. james.j.filiano@hitchcock.org
D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening