New neurometabolic disorders: indicative clinical signs
Correspondencia: Dra. M.T. García Silva. Unidad de Enfermedades Mito[1]condriales-Enfermedades Metabólicas Hereditarias. Hospital 12 de Octu[1]bre. Ctra. de Andalucía, km 5,4. E-28041 Madrid. Fax: +34 91390 8375.
E-mail: rgb@mad.servicom.es
Three groups of disorders are reviewed: the syndromes with carbohydrate deficient glycoproteins, congenital errors of metabolism involving purines and pyrimidines, and finally those of the neurotransmitters. Individually these disorders are rare, but as a group include many different pathological conditions. We list the clinical symptoms and laboratory data in patients with different enzyme deficiencies. Although some disorders have specific clinical characteristics, most have nonspecific clinical features which makes diagnosis difficult.
