The occurrence of mucopolysaccharidosis type I. Hurler and generalized gangliosidosis GM1, two rare autosomal recessive inborn errors of metabolism with similar phenotypical features in one highly inbred family emphasize the importance of etiological diagnosis for the evaluation of genetic prognosis and exact genetic prevention.

        Key words: highly inbred population, autosomal recessive inborn errors of metabolism,mucopolysaccharidosis type I Hurler and generalized gangliosidosis GM1 - pseudoHurler in one family