loading
Sách, tuyển tập

Mucopolysaccharidosis type I: clinical and biochemical study / Bassyouni, H.T.

Tác giả : Bassyouni, H.T.

Năm xuất bản : 2000

Chủ đề : 1. Iduronidase. 2. Mucopolysaccharidosis I.

Chia sẻ

Thông tin chi tiết

Tóm tắt :

359-366 Of 1240 outpatients referred to the Human Genetics Clinic between 1997 and 1998, 248 [20%] had inborn errors of metabolism, 36 [14%] of which were diagnosed as mucopolysaccharidoses. Parental consanguinity was present in 82% of these patients. Deficiency of alpha-L-iduronidase [IDUA] enzyme in leukocytes and increased urinary mucopolysaccharides excretion were detected in 17 patients. The urinary spot test for glucosaminoglycans was inconclusive in 4 of the 17 cases. Results showed a correlation between the biochemical enzyme activity in leukocytes, the amount of excreted mucopolysaccharides and the subtype and course of mucopolysaccharidosis type I. We conclude that estimation of IDUA enzyme activity in leukocytes can differentiate between clinically overlapping cases of MPS I and MPS II and given the clinical manifestations of MPS I is a definitive and unequivocal method of diagnosis while the urinary spot test is inconclusive
Chia sẻ


Hiển thị MARC

 Thông tin dữ liệu nguồn

 Thư viện  Ký hiệu xếp giá  Dữ liệu nguồn
Tổ chức y tế thế giới
https://iris.who.int/handle/10665/118877