" /> Galactosialidosis - CISMeF





Preferred Label : Galactosialidosis;

ICD-11 definition : Galactosialidosis is a rare lysosomal storage disorder encompassing three clinical phenotypes: the congenital or early infantile form (marked by edema, ascites, hepatosplenomegaly, neurological disorders, renal failure, facial dysmorphism, skeletal anomalies and cherry-red spots and early blindness), the late infantile form (normal or mildly affectedintellectual development), and the juvenile and adult forms (slowly progressing neurological disorder, facial dysmorphism, dysostosis mutiplex, cherry-red spots and corneal opacities and angiokeratomas).;

ICD-11 synonym : Protective protein deficiency; Neuraminidase deficiency with beta-galactosidase deficiency; Combined deficiency of neuraminidase and beta-galactosidase; Goldberg syndrome;

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Galactosialidosis is a rare lysosomal storage disorder encompassing three clinical phenotypes: the congenital or early infantile form (marked by edema, ascites, hepatosplenomegaly, neurological disorders, renal failure, facial dysmorphism, skeletal anomalies and cherry-red spots and early blindness), the late infantile form (normal or mildly affectedintellectual development), and the juvenile and adult forms (slowly progressing neurological disorder, facial dysmorphism, dysostosis mutiplex, cherry-red spots and corneal opacities and angiokeratomas).

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28/05/2025


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