Clinical and enzyme studies in Gaucher disease.
OBJECTIVE
To study the clinical and biochemical spectrum of Gaucher disease.


METHODS
Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis.


METHODS
Hospital-based.


METHODS
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.


CONCLUSIONS
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.
Kaur
M
M
Department of Pediatrics, WHO Collaborating Center in Genetics, All India Institute of Medical Sciences, New Delhi.
Kabra
M
M
Kher
A
A
Naik
G
G
Bharucha
B A
BA
Verma
I C
IC
D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D013163:Splenomegaly; D001617:beta-Glucosidase / Q000097:blood*
D001617:beta-Glucosidase