Turkish Journal of Medical Sciences
DOI
-
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.
First Page
331
Last Page
334
Recommended Citation
BODUROĞLU, KORAY; TUNÇBİLEK, ERGÜL; COŞKUN, TURGAY; and UÇAR, CANAN (1999) "Infantile Galactosialidosis Associated WithVitamin D Deficiency Rickets," Turkish Journal of Medical Sciences: Vol. 29: No. 3, Article 21. Available at: https://journals.tubitak.gov.tr/medical/vol29/iss3/21
