Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).
We report the results over 15 years (1977-1991) for biochemical diagnoses of patients referred from throughout Italy and suspected of having a mucopolysaccharidosis. Of these, 147 patients were diagnosed as being homozygous or hemizygous for a specific lysosomal enzyme deficiency; 74 pregnancies at risk were monitored in their families; 76 heterozygote diagnoses were performed on their relatives, with a total of 48 positive diagnoses. We also report the analysis of genomic DNA from 11 unrelated Italian Hunter patients, using pc2S15 probe. DNA from two patients, digested with Pst-I, showed a variant pattern of hybridization caused by deletion or rearrangement of the gene.
Di Natale
P
P
Dipartimento di Biochimica e Biotecnologie Mediche, II Facoltà di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, Naples, Italy.
Annella
T
T
Daniele
A
A
De Luca
T
T
Morabito
E
E
Pallini
R
R
Rosario
P
P
Spagnuolo
G
G
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008214:Lymphocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D012016:Reference Values
D004798:Enzymes