Metabolic diagnostic work-up in chronic conditions
Marie-Cécile Nassogne1, Lucie Hertz-Pannier
1Pediatric Neurology and Metabolism, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
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.
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