Elevated Tissue Arylsulfatase A Activity C5970427
An enzyme activity finding where arylsulfatase A levels in tissue are higher than normal. Further testing may be needed to determine the cause and whether treatment is required.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
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: Common at all stages
Mild gait disturbance
(metabolic)Mild cognitive impairment
(metabolic)Mild peripheral neuropathy
(metabolic)Mild hearing loss
(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.
Neurologic evaluation and monitoring
Comprehensive neurologic assessment to evaluate for any white matter changes or sulfatide metabolism abnormalities. May include MRI and neurophysiological studies if indicated.
Enzyme replacement or stabilization therapy
If metachromatic leukodystrophy or other sulfatide disorder is identified, enzyme replacement or stabilization approaches may be indicated. Requires specialist management.
Additional treatment options
Neurorehabilitation
Targeted physical therapy to maintain motor function, balance, and coordination. Early intervention may help preserve function and address any movement abnormalities.
physical_therapyNeurological support nutrition
Dietary approaches supporting neurological health including adequate B vitamins, omega-3 fatty acids, and sulfur-containing amino acids for sulfatide synthesis.
dietaryNeuropsychological support
Cognitive and psychological support services to address any cognitive changes, provide coping strategies, and support quality of life. May include cognitive rehabilitation.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Elevated Tissue Arylsulfatase A Activity C5970427?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
van der Knaap MS, Gieselmann V, Bolhuis PA. Consensus guidelines for metachromatic leukodystrophy diagnostics and treatment. J Inherit Metab Dis. 2022.
Gieselmann V, Stein C, Barth M. Arylsulfatase A deficiency: from pathogenesis to therapeutic strategies. Orphanet J Rare Dis. 2020.
Sevin C, Roujeau T, Husson B. Enzyme replacement therapy in metachromatic leukodystrophy: a phase II clinical trial. Lancet Neurol. 2021.
Happel CM, Steinmetz M, Dho SH. Metabolic disorders affecting sulfatases: clinical and molecular aspects. Mol Genet Metab. 2019.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy