Strisciuglio_1990_Am.J.Med.Genet_37_573

Reference

Title : Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form - Strisciuglio_1990_Am.J.Med.Genet_37_573
Author(s) : Strisciuglio P , Sly WS , Dodson WE , McAlister WH , Martin TC
Ref : American Journal of Medicine Genet , 37 :573 , 1990
Abstract :

We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. Foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes.

PubMedSearch : Strisciuglio_1990_Am.J.Med.Genet_37_573
PubMedID: 2148053
Gene_locus related to this paper: human-CTSA

Related information

Citations formats

Strisciuglio P, Sly WS, Dodson WE, McAlister WH, Martin TC (1990)
Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form
American Journal of Medicine Genet 37 :573

Strisciuglio P, Sly WS, Dodson WE, McAlister WH, Martin TC (1990)
American Journal of Medicine Genet 37 :573