title: Inborn Errors of Metabolism (Metabolic Disorders).
abstract: By their very nature, rare inborn errors of metabolism challenge the generation and application of evidence-based medicine. • On the basis of limited research evidence as well as consensus, newborn screening for select metabolic disorders, including phenylketonuria, medium-chain acyl CoA dehydrogenase deficiency, and glutaric acidemia type I, may improve long-term outcomes for affected children. • On the basis of primarily consensus, due to lack of relevant clinical studies, inborn errors due to defects in the metabolism of energy sources (protein, fatty acids, and carbohydrates) may present in infancy with overwhelming metabolic decompensation, and initial laboratory evaluations may reveal hyperammonemia, nonketotic hypoglycemia, or a metabolic acidosis with an elevated anion gap, depending on the disorder. • On the basis of primarily consensus, due to lack of relevant clinical studies, specific laboratory testing for inborn errors of metabolism should include plasma amino acids, urine organic acids, plasma carnitine, and plasma acylcarnitine profile. • On the basis of primarily consensus, due to lack of relevant clinical studies, disorders of cellular organelles, such as lysosomal and peroxisomal disorders, may present with progressive organomegaly, developmental regression, dysmorphic facial characteristics. or sensory loss.
authors.affiliation: Department of Pediatrics and the Waisman Center, University of Wisconsin School of Medicine and Public Health, Madison, WI.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Rice
authors.affiliation: Department of Pediatrics and the Waisman Center, University of Wisconsin School of Medicine and Public Health, Madison, WI. Marshfield Clinic Research Foundation, Marshfield, WI.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D019411:Clinical Laboratory Techniques; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D052439:Lipid Metabolism Disorders / Q000175:diagnosis; D016464:Lysosomal Storage Diseases / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D028361:Mitochondrial Diseases / Q000175:diagnosis; D015997:Neonatal Screening; D018901:Peroxisomal Disorders / Q000175:diagnosis