High proportion  of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.
Although  lysosomal storage disorders (LSDs) are considered individually rare, as a group  they present a non-negligible frequency. Few studies have been made of  populational occurrence of LSDs; they have been conducted predominantly on  Caucasian populations. We studied the occurrence of LSDs in Cuba. Data from  individuals who had been referred to the Institute of Neurology and  Neurosurgery in Havana from hospitals all over the country between January 1990  and December 2005 were analyzed. This institute was the only laboratory to  provide enzyme-based diagnostic testing for 19 LSDs in Cuba during this period.  Occurrence rates were calculated by dividing the number of postnatal diagnoses  by the number of births during the study period. The combined occurrence of  LSDs in Cuba was 5.6 per 100,000, lower than that reported in other studies  conducted on Caucasian populations. The most frequent individual LSDs were:  mucopolysaccharidosis type I (1.01 per 100,000) and, surprisingly,  alpha-mannosidosis (0.72 per 100,000) and fucosidosis (0.62 per 100,000). These  findings may be related to specific genetic characteristics and admixture of  the Cuban population. This is the first comprehensive study of the occurrence  of LSDs in Cuba. We conclude that the epidemiology of these diseases can vary  regionally, and we stress the need for similar surveys in other Latin American  countries.
Neurobiology Department, Institute of Neurology and Neurosurgery, Havana, Cuba. cary@infomed.sld.cu
C
C
Menéndez-Sainz
A
A
González-Quevedo
S
S
González-García
M
M
Peña-Sánchez
R
R
Giugliani
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003462:Cuba / Q000453:epidemiology; D005645:Fucosidosis / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D008875:Middle Aged; D055815:Young Adult; D008363:alpha-Mannosidosis / Q000175:diagnosis / Q000453:epidemiology*