Living with Combined deficiency of sialidase AND beta galactosidase
A genetic condition (galactosialidosis) affecting many body areas, with forms that start from infancy to adulthood.
Understanding Combined deficiency of sialidase AND beta galactosidase
There are three forms based on the age symptoms begin and the pattern of features. Infant forms can involve bone differences, coarse facial features, an enlarged liver and spleen, and heart or eye findings. The juvenile/adult form involves coordination problems, muscle twitches, seizures and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial features
- Bone and spine differences (skeletal dysplasia)
- Cherry-red spot in the eye
- Clouding of the cornea
- Hearing loss
- Seizures and intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CTSA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The International Advocates for Glycoprotein Storage Diseases (ISMRD) may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD)
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The International Advocates for Glycoprotein Storage Diseases (ISMRD)
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CTSA gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cathepsin a deficiency; combined deficiency of neuroaminidase and beta galactosidase; galactosialidosis; goldberg syndrome; gsl; gsl - galactosialidosis
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Combined deficiency of sialidase AND beta galactosidase · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined deficiency of sialidase AND beta galactosidase.
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