E75.26
Sulfatase deficiency
Clinical Classification Guidelines
Inclusion Terms
- Multiple sulfatase deficiency (MSD)
Medical Intelligence & Overview
Multiple Sulfatase Deficiency (MSD) is a rare genetic disorder characterized by the deficiency of multiple sulfatase enzymes, which are crucial for breaking down certain molecules in the body. This disorder often presents in infancy or early childhood with a range of developmental and physical problems. Although it shares features with other storage disorders, MSD uniquely involves multiple enzyme deficiencies, leading to complex health challenges.
Causes & Symptoms
Clinical Causes: Mutations in the SUMF1 gene, responsible for producing an enzyme that activates other sulfatases Inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene from both parents
Key Symptoms: Hardened skin (ichthyosis) Developmental delays and intellectual disability Hearing loss and vision problems Coarse facial features Enlargement of the liver and spleen (hepatosplenomegaly) Skeletal abnormalities such as joint stiffness and abnormal bone growth Respiratory issues Frequent infections
Diagnostic & Treatment
Diagnosis Path: Enzyme activity tests to measure levels of sulfatases in blood or tissue samples Genetic testing to identify mutations in the SUMF1 gene Imaging studies such as X-rays to assess skeletal abnormalities Assessment of developmental milestones and physical examinations
Treatment Protocols: Supportive therapies including physical, occupational, and speech therapies Monitoring and treatment of respiratory and cardiac issues Management of skin symptoms and orthopedic interventions for skeletal deformities Regular developmental assessments and educational support Research into enzyme replacement and gene therapies is ongoing but not yet widely available
Clinical Advice & FAQs
Billing Guidance
Is E75.26 a billable ICD-10 code?
Yes, E75.26 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E75.26?
Clinical documentation must specify the nature of Sulfatase deficiency and any associated comorbidities for accurate reporting.
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