Clinical and enzyme studies in Gaucher disease.
Indian Pediatr
;
1996 Sep; 33(9): 735-8
Article
in English
| IMSEAR
| ID: sea-6585
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Splenomegaly
/
Female
/
Humans
/
Child
/
Child, Preschool
/
Beta-Glucosidase
/
Clinical Enzyme Tests
/
Gaucher Disease
/
Infant
Type of study:
Prognostic study
Language:
English
Journal:
Indian Pediatr
Year:
1996
Type:
Article
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