[Hereditary lysosomal diseases in Mexico. II. Laboratory diagnosis of mucopolysaccharidosis and mucolipidosis].
Methods suitable for the diagnosis of the mucopolysaccharidoses and mucolipidosis using urine, serum and leucocytes are presented. The methodology includes a screening technique for the mucopolysaccharidoses, a determination of glycosaminoglycans excreted in urine, serum and leucocyte enzymatic determinations for deficient lysosomal enzymes in lysosomal storage diseases. Their use is validated in the diagnosis of 19 patient with mucopolysaccharidoses and 5 with mucolipidoses, and to establish a carrier state in 10 close relatives.
Zetina
M E
ME
Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, D.F.
Gonzalez-Noriega
A
A
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D002985:Clinical Protocols; D003937:Diagnosis, Differential; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D008800:Mexico; D009081:Mucolipidoses / Q000175:diagnosis* / Q000652:urine; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000652:urine
D006025:Glycosaminoglycans
Enfermedades hereditarias lisosomales en México. II. Diagnóstico de laboratorio de mucopolisacaridosis y mucolipidosis.