Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
Gaucher's disease is an inherited glycolipid storage disorder, caused by a deficiency of the catabolic enzyme glucocerebrosidase. Frequently, N370S and L444P of mutations are observed. R463C (i.e., 1504C-->T) mutation may predict neurological involvement in Gaucher's disease. We report a 36-year-old Turkish man with type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
Bolaman
Zahit
Z
Adnan Menderes University Medical School, Division of Haematology-Oncology, Bilim Dali, 09100 Aydin, Turkey. zahitb@yahoo.com
Kadikoylu
Gurhan
G
Levi
Edi
E
Barutca
Sabri
S
Temucin
Kubra
K
D000328:Adult; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009420:Nervous System / Q000473:pathology; D017354:Point Mutation
D005962:Glucosylceramidase