ORGANIC ACIDURIAS WITH NEUROLOGICAL PRESENTATION

I. Barić

Organic acidurias are increasing and underdiagnozed group of inherited metabolic diseases. Most of them are characterized by neurological presentation. If early diagnozed, the majority is treatable. In this article guidelines for their better recognition are given. The most important clinical features of organic acidurias with neurological presentation are summarized in a table. Diagnostic approach is clarified. Of utmost importance is correct initial management, before referral to a specializied center. Interpretation of related specific diagnostic investigations and long-term treatment are in subspecialist domain. The necessity of better knowledge of organic acidurias, permanent education and communication of primary and secondary health care with specializied metabolic teams of clinicans and biochemists are stressed.