title: Lysosomal storage disorders.
abstract: This study was conducted to assess the variability of clinical expression of Lysosomal storage disorders (LSDs) and the selection of specific enzyme investigation to reach the differential diagnosis. Initially 150 children in the age range of 15 days to 13 years were screened for common metabolic disorder and based on screening results, clinical signs and symptoms, 30 children(4 mo-12 yr) of these were selected for the leukocyte enzyme study. Of these 21 were confirmed to have LSDs. The most common disorder was GM2-gangliosidosis (47.61%, 10/21) followed by mucopolysaccharidosis (33.33%; 7/21). All showed variable phenotypic expression. Metachromatic leukodystrophy (MLD) was observed in 9.5% (2/21) of children with arylsulphatase A enzyme deficiency, while two children had shown pseudodeficiency of arylsulphatase A. One case each of galactosialidosis and GMI-gangliosidosis were observed. We conclude that children with developmental delay, seizures, dysmorphic features and organomegaly, with or without positive urinary screening for common metabolic disorders, need to be investigated further for LSDs. Variability of clinical expression is commonly observed in LSDs which require further confirmation by specific leukocyte enzyme study.
authors.affiliation: FRIGE (Foundation for Research in Genetics and Endocrinology), Genetic Center, 20/1, Bima Nagar, Satellite, Ahmedabad 380 015, India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.forename: Pinaki
authors.initials: P
authors.lastname: Patel
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
authors.forename: Raju
authors.initials: R
authors.lastname: Shah
mesh_terms: D000293:Adolescent; D019883:Alkyl and Aryl Transferases / Q000172:deficiency; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000503:physiopathology*; D001616:beta-Galactosidase / Q000172:deficiency; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency
chemical_list: D015415:Biomarkers; D019883:Alkyl and Aryl Transferases; D001616:beta-Galactosidase; D001619:beta-N-Acetylhexosaminidases