Clinical and enzyme studies in Gaucher disease.

Abstract:

OBJECTIVE:To study the clinical and biochemical spectrum of Gaucher disease. DESIGN:Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING:Hospital-based. SUBJECTS:Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS:The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION:In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Kaur M,Kabra M,Kher A,Naik G,Bharucha BA,Verma IC

subject

Has Abstract

pub_date

1996-09-01 00:00:00

pages

735-8

issue

9

eissn

0019-6061

issn

0974-7559

journal_volume

33

pub_type

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