Living with Sphingolipid activator protein 1 deficiency
A genetic condition that causes metachromatic leukodystrophy, a disease of the brain's white matter and nerves, with onset from toddlers to adults.
Understanding Sphingolipid activator protein 1 deficiency
The summary describes three forms. In the late infantile form, children lose speech they had learned, become weak and have trouble walking. In the juvenile form, signs start between age 4 and adolescence, often with behavior problems and difficulty with schoolwork. In the adult form, signs start in the teens or later, often with behavior or psychiatric changes. Muscle tone first falls and then becomes stiff. Cells collect sulfatides, a fatty substance.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills already learned
- Developmental delay
- Muscle weakness and low muscle tone
- Trouble walking
- Nerve damage (neuropathy)
- Slurred speech
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
MLD Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: MLD Foundation, United Leukodystrophy Foundation
- 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 MLD Foundation 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
GARD lists changes in the PSAP gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency; metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator; metachromatic leukodystrophy due to sap-b deficiency; metachromatic leukodystrophy due to saposin b deficiency; sapi - sphingolipid activator protein i deficiency; saposin b deficiency
Patient organizations
- MLD FoundationSphingolipid activator protein 1 deficiency · United States
- Hunter's Hope FoundationSphingolipid activator protein 1 deficiency · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Sphingolipid activator protein 1 deficiency.
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