Pseudoarylsulfatase A Deficiency C1855255
A benign metabolic condition where an enzyme deficiency does not cause severe symptoms, unlike true arylsulfatase A deficiency. Most people have no health problems. No specific treatment is usually needed.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Varies
Peripheral neuropathy
(metabolic)Mild gait disturbance (ataxia)
(metabolic)Decreased deep tendon reflexes
(metabolic)Urinary incontinence
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Regular disease monitoring
Periodic neurological assessments, imaging studies, and laboratory tests to track disease progression and organ involvement. Early detection of complications allows for timely intervention.
Enzyme replacement therapy
Intravenous administration of recombinant arylsulfatase A to supplement deficient enzyme activity. Treatment aims to reduce sulfatide accumulation in tissues and slow disease progression.
Additional treatment options
Hematopoietic stem cell transplantation
Bone marrow or cord blood transplant to provide functional enzyme-producing cells. Reserved for severe cases or when other therapies are insufficient.
procedureSubstrate reduction therapy
Pharmacological approach to reduce the production of sulfatide substrates, complementing enzyme replacement by decreasing the metabolic burden on remaining enzyme activity.
medicationSupportive care and rehabilitation
Multidisciplinary supportive approach including physical therapy, occupational therapy, and symptomatic treatment of specific manifestations such as seizures or movement disorders.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Pseudoarylsulfatase A Deficiency C1855255?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy