Turkish Journal of Medical Sciences
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.
DOI
-
Keywords
Dysostosis multiplex, galac-tosialidosis, intermediate infantile form, vitamin D deficiency.
First Page
331
Last Page
334
Recommended Citation
BODUROĞLU, K, TUNÇBİLEK, E, COŞKUN, T, & UÇAR, C (1999). Infantile Galactosialidosis Associated WithVitamin D Deficiency Rickets. Turkish Journal of Medical Sciences 29 (3): 331-334. https://doi.org/-
