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Galactosialidosis in two siblings

A Yuce¹, N Kocak, G T Besley

¹Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics

|January 1, 1996

Summary

This summary is machine-generated.

Galactosialidosis, a rare lysosomal storage disease, presents with foamy cells and organ enlargement. Enzyme studies are crucial for diagnosis and prenatal testing in affected families.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Galactosialidosis is a rare lysosomal storage disorder.
It involves deficiencies in alpha-galactosidase and beta-neurominidase enzymes.
Clinical presentation can mimic Niemann-Pick disease, featuring foamy cells, splenomegaly, and hepatomegaly.