Metabolic disease of the neonate and young infant.
The inborn errors of metabolism must always be considered when a newborn presents with neurological distress, feeding difficulties, or a family history of neonatal or unexplained death. Clinical suspicion combined with prompt sophisticated laboratory evaluation is crucial if infants affected with this group of disorders are to be rescued.
Seashore
M R
MR
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Rinaldo
P
P
D000592:Amino Acid Metabolism, Inborn Errors; D002239:Carbohydrate Metabolism, Inborn Errors; D004632:Emergency Medical Services; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy