[New neurometabolic disorders: indicative clinical signs].
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.
García-Silva
M T
MT
Unidad de Enfermedades Mitocondriales-Enfermedades Metabólicas Hereditarias, Hospital 12 Octubre, Madrid, España. rgb@mad.servicom.es
D017825:Canavan Disease / Q000175:diagnosis*; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006943:Hyperglycemia / Q000175:diagnosis* / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000378:metabolism; D008995:Monoamine Oxidase / Q000172:deficiency* / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
D005680:gamma-Aminobutyric Acid; D008995:Monoamine Oxidase