- Turkish Journal of Medical Sciences
- Vol: 29 Issue: 3
- Infantile Galactosialidosis Associated With Vitamin D Deficiency Rickets
Infantile Galactosialidosis Associated With Vitamin D Deficiency Rickets
Authors : Koray Boduroğlu
Pages : 331-334
View : 8 | Download : 3
Publication Date : 9999-12-31
Article Type : Makaleler
Abstract :Galactosialidosis is an autosomal recessive disease with combined deficiency of two lysosomal enzymes due to the lack of a protective protein. We report on a boy with infantile galactosialidosis who has an intermediate phenotype and vitamin D deficiency rickets. Due to the possible role of vitamin D deficiency in the pathogenesis of dysostosis multiplex we recommend that patients with lysosomal storage disease should be supplemented with vitamin D.Keywords : Dysostosis multiplex, galac-tosialidosis, intermediate infantile form, vitamin D deficiency.