[Mannosidosis. Study of two families and prenatal diagnosis]. / La mannosidosi. Studio di due famiglie e diagnosi prenatale.

ABSTRACT

Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.