[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].
Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days. Enzyme replacement therapy was started at the age of 2months. We report the patient's evolution after 4years of treatment.
Castelló Girona
F
F
Servicio de Pediatría. Hospital Materno-Infantil Vall d'Hebron. Barcelona. secrepa@cs.vhebron.es
Domínguez Luengo
C
C
del Toro Riera
M
M
Chabás Bergon
A
A
D002675:Child, Preschool; D005776:Gaucher Disease / Q000188:drug therapy* / Q000235:genetics*; D005838:Genotype; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D013030:Spain
D005962:Glucosylceramidase