Abstract

SZLAGO, Marina. Practical approach to the diagnosis of inherited metabolic diseases. Medicina (B. Aires) [online]. 2022, vol.82, suppl.3, pp.40-45. ISSN 0025-7680.

Inborn errors of metabolism constitute a growing group of rare diseases with usual neurological impact. Hete-rogeneous in clinical and biochemical aspects, its diagnosis and treatment are difficult. Advances in its knowledge, in diagnostic methods and in its treatments, highlight the importance of a timely diagnosis, the gateway to access to early medical intervention. The neuropediatrician’s suspicion in different clini cal situations is very relevant. This article aims to be a practical contribution to facilitate their recognition.

Keywords : Inherited errors of metabolism; Diagnostic approach; Neurological signs; Treatment.

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