Metabolic diagnostic work-up in chronic conditions

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.