title: Metabolic diagnostic work-up in chronic conditions.
abstract: Neurological symptoms are very frequent in inborn errors of metabolism. This chapter presents a general approach to investigate inborn errors of metabolism in chronic neurological conditions. A diagnostic work-up has been designed to evaluate progressive neurological conditions with motor, cognitive, and/or behavioral signs in early infancy, late infancy to early childhood, and late childhood to adolescence. Inborn errors of metabolism associated with peripheral neuropathies, microcephaly, or macrocephaly are also reviewed.
authors.affiliation: Pediatric Neurology and Metabolism, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium. Electronic address: marie-cecile.nassogne@uclouvain.be.
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Nassogne
authors.forename: Lucie
authors.initials: L
authors.lastname: Hertz-Pannier
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000378:metabolism; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000378:metabolism