title: [Hereditary lysosomal diseases in Mexico. III. Laboratory diagnosis of sphingolipidosis].
abstract: Enzymatic determinations of the levels of lysosomal enzymes in serum or leukocytes samples have been carried out for the diagnosis of 7 sphingolipidosis. This methodology has allowed us to study 49 homozygotes and 33 close relatives at risk for the carrier state of a particular sphingolipidosis. So far we have diagnosed: 21 Gaucher's disease patients, 17 metachromatic leukodistrophy, 4 Niemann-Pick, 4 GM2 gangliosidosis, 2 Fabry and one GM1 gangliosidosis. Limitations in the performance and interpretation of the levels of the defective enzyme in heterozygotes, homozygotes and those variants not detected with the assays described are discussed.
authors.affiliation: Unidad de Genética de la Nutrición, Universidad Nacional Autónoma deMéxico, D.F.
authors.forename: M E
authors.initials: ME
authors.lastname: Zetina
authors.forename: A
authors.initials: A
authors.lastname: González-Noriega
mesh_terms: D000328:Adult; D004796:Clinical Enzyme Tests; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008800:Mexico; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000235:genetics
vernacular_title: Enfermedades hereditarias lisosomales en México. III. Diagnóstico de laboratorio para esfingolipidosis.