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Galactosialidosis
A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that is caused by homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that is caused by homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
Resources
Join the Galactosialidosis community
Talk with people who understand, share what helps, and find support from others living with galactosialidosis. Private, moderated, and free.
Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.