Galactosialidosis

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Galactosialidosis

Synonyms: Goldberg syndrome | Neuraminidase deficiency with beta-galactosidase deficiency

Galactosialidosis is a lysosomal storage disease characterized by coarse facial features macular ”cherry red spot” and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe early-onset rapidly progressive infantile form to late onset slowly progressive juvenile/adult form.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Galactosialidosis?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

International Society for Mannosidosis and Related Diseases

ISMRD is an internationally focused not-for-profit organization whose mission is to advocate for families and patients affected by, Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Sialidosis (Mucolipidosis I), Mucolipidosis II, II/III, III alpha/beta, Mucolipidosis III Gamma, and Schindler Disease.

Clinical Trials

For a list of clinical trials in this disease area, please click here.