Living with Krabbe disease due to saposin A deficiency
A rare metabolic and nerve disease that starts in infancy and affects the lungs, brain, and nerves.
Understanding Krabbe disease due to saposin A deficiency
It is different genetically from the more common form of Krabbe disease. It usually begins in infancy and involves the lungs, brain, and nerves. GARD lists feeding difficulties, seizures, and changes in muscle tone and reflexes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing problems
- Pauses in breathing (central apnea)
- Feeding difficulties
- Seizures
- Muscle stiffness (hypertonia)
- Worsening nervous system symptoms
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 genetic specialists.
- 3Consider genetic testing
Changes in PSAP 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
Krabbe Connect may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: Krabbe Connect
- 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 Krabbe Connect and other patient organizations
- 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 prosaposin (PSAP) gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: atypical krabbe disease due to saposin a deficiency; krabbe disease, atypical; krabbe disease, atypical due to saposin a deficiency; krabbe disease, atypical, due to saposin a deficiency; saposin a deficiency
Patient organizations
- Krabbe ConnectKrabbe disease due to saposin A deficiency · United States
- Child Neurology FoundationKrabbe disease due to saposin A deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Krabbe disease due to saposin A deficiency.
Explore research for Krabbe disease due to saposin A deficiency
Explore actively recruiting Krabbe disease due to saposin A deficiency studies with HealthSpark.
Find actively recruiting studies for Krabbe disease due to saposin A deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Krabbe disease due to saposin A deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Krabbe disease due to saposin A deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Krabbe disease due to saposin A deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.