Infantile Galactosialidosis Associated With Vitamin D Deficiency Rickets

Authors: KORAY BODUROĞLU, ERGÜL TUNÇBİLEK, TURGAY COŞKUN, CANAN UÇAR

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.

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