[Hereditary lysosomal diseases. I. Initial results of a diagnostic program in Mexico].
Results obtained by the Lysosome Storage Disease Diagnostic Program are described as well as the criteria used for the selection of patients to be studied. This program was started in 1983 and is sponsored by the National Reference Center for the Detection and Diagnosis of Inborn Errors of Metabolism in Mexico City. Laboratory tests include chemical determinations of urinary glycosaminoglycans and enzymatic assays of 15 lysosomal enzymes that allow the identification of 25 of the 35 lysosomal storage diseases known. A total of 259 patients with clinical phenotypes suggesting a lysosomal storage disease, and 47 individuals at risk for the carrier state were studied. The disease diagnosed were 35 patients with mucopolysaccharidoses, 27 with sphingolipidoses, 5 with mucolipidoses and 7 with glycogenoses; the most common lysosomal storage disease was Gaucher followed in decreasing frequency by Morquio, Hunter and glycogenoses Ia. The carrier state was confirmed in 29 of close relatives, one of them confirmed prenatally.
Zetina
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ME
González-Noriega
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A
D006580:Genetic Carrier Screening; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000652:urine; D008800:Mexico; D009083:Mucopolysaccharidoses / Q000175:diagnosis*
D006025:Glycosaminoglycans
Enfermedades hereditarias lisosomales. I. Resultados iniciales del programa para su diagnóstico en México.