Gaucher's disease.
Gaucher's disease is the most common group of lysosomal storage disorders caused by defective activity of an enzyme beta-glucosidase leading to accumulation of glucocerebroside in cells of macrophage lineage. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. Serum beta=glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. We report a clinical case of a 21 year male with Gaucher's disease. To the best of our knowledge only six cases of Gaucher's disease have been reported from India so far.
Patel
A L
AL
Department of General Medicine, Grant Medical College, Mumbai, India.
Shaikh
W A
WA
Khobragade
A K
AK
Soni
H G
HG
Joshi
A S
AS
Sahasrabudhe
G S
GS
Chole
P V
PV
D000328:Adult; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology* / Q000601:surgery; D005962:Glucosylceramidase / Q000378:metabolism*; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D008297:Male; D013154:Spleen / Q000201:enzymology / Q000601:surgery; D001617:beta-Glucosidase / Q000378:metabolism
D005963:Glucosylceramides; D001617:beta-Glucosidase; D005962:Glucosylceramidase