ICD-10: E75.26

Clinical Description of Sulfatase Deficiency (ICD-10 Code E75.26)

Sulfatase deficiency is a rare genetic disorder characterized by the deficiency of one or more sulfatase enzymes, which are crucial for the breakdown of sulfate esters in various biological molecules. This condition can lead to the accumulation of sulfated compounds, resulting in a range of clinical manifestations.

Types of Sulfatase Deficiency

Sulfatase deficiency encompasses several specific disorders, including:

1. Multiple Sulfatase Deficiency (MSD): This is the most common form, where there is a deficiency in multiple sulfatases, leading to a variety of symptoms affecting multiple organ systems. It is caused by mutations in the SUMF1 gene, which is essential for the activation of sulfatases.

2. Arylsulfatase A Deficiency: This specific deficiency is associated with metachromatic leukodystrophy, a disorder that affects the nervous system.

3. Other Specific Deficiencies: These may include deficiencies in steroid sulfatase, which can lead to conditions such as X-linked ichthyosis.

Clinical Features

The clinical presentation of sulfatase deficiency can vary widely depending on the specific type and severity of the deficiency. Common symptoms include:

• Neurological Symptoms: Developmental delays, cognitive impairment, and motor dysfunction are prevalent, particularly in multiple sulfatase deficiency.
• Skeletal Abnormalities: Patients may exhibit skeletal dysplasia, leading to short stature and other bone-related issues.
• Dermatological Manifestations: Skin problems, including ichthyosis, can occur, especially in steroid sulfatase deficiency.
• Hematological Issues: Some patients may experience anemia or other blood-related disorders.

Diagnosis

Diagnosis of sulfatase deficiency typically involves:

• Clinical Evaluation: A thorough assessment of symptoms and family history.
• Biochemical Testing: Measurement of sulfatase enzyme activity in blood or tissue samples.
• Genetic Testing: Identification of mutations in relevant genes, such as SUMF1 for multiple sulfatase deficiency.

Management and Treatment

Currently, there is no cure for sulfatase deficiency, and management focuses on alleviating symptoms and improving quality of life. This may include:

• Supportive Care: Physical therapy, occupational therapy, and educational support for developmental delays.
• Symptomatic Treatment: Addressing specific symptoms as they arise, such as managing skin conditions or neurological symptoms.

Conclusion

Sulfatase deficiency, classified under ICD-10 code E75.26, represents a group of rare genetic disorders with significant clinical implications. Early diagnosis and supportive management are crucial for improving patient outcomes. Ongoing research into gene therapy and enzyme replacement therapy holds promise for future treatment options, potentially altering the course of these conditions.

Sulfatase deficiency, classified under ICD-10 code E75.26, encompasses a group of rare genetic disorders characterized by the deficiency of sulfatase enzymes. These enzymes are crucial for the breakdown of sulfated compounds, which are vital for various biological processes. The clinical presentation of sulfatase deficiency can vary significantly depending on the specific type of sulfatase that is deficient, but there are common signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Types of Sulfatase Deficiency

Sulfatase deficiency can manifest in several forms, including:
- Multiple Sulfatase Deficiency (MSD): Affects multiple sulfatases and leads to a range of neurological and systemic symptoms.
- Arylsulfatase A Deficiency: Often associated with metachromatic leukodystrophy.
- N-Acetylgalactosamine-4-sulfatase Deficiency: Linked to mucopolysaccharidosis type VI (MPS VI).

Common Signs and Symptoms

The clinical manifestations of sulfatase deficiency can include:

• Neurological Symptoms:
• Developmental delays or regression
• Cognitive impairment
• Seizures
• Ataxia (loss of coordination)

• Behavioral changes

• Physical Symptoms:

• Skeletal abnormalities (e.g., dysostosis)
• Joint stiffness or contractures
• Short stature

• Facial dysmorphism (distinctive facial features)

• Systemic Symptoms:

• Hepatosplenomegaly (enlarged liver and spleen)
• Cardiac issues (in some forms)
• Respiratory problems due to airway obstruction or lung involvement

Age of Onset

Symptoms typically present in early childhood, although the severity and specific symptoms can vary widely. In some cases, symptoms may not appear until later in childhood or even adulthood, particularly in milder forms of the deficiency.

Patient Characteristics

Genetic Background

Sulfatase deficiencies are inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected. Genetic testing can confirm the diagnosis by identifying mutations in the relevant sulfatase genes.

Demographics

• Prevalence: These conditions are rare, with varying prevalence rates depending on the specific type of sulfatase deficiency and the population studied.
• Ethnic Variability: Certain types of sulfatase deficiencies may be more prevalent in specific ethnic groups due to genetic factors.

Diagnostic Considerations

Diagnosis typically involves:
- Clinical Evaluation: Assessment of symptoms and family history.
- Biochemical Testing: Measurement of enzyme activity in blood or tissue samples.
- Genetic Testing: Identification of mutations in sulfatase genes.

Conclusion

Sulfatase deficiency, represented by ICD-10 code E75.26, presents a complex clinical picture characterized by a range of neurological, physical, and systemic symptoms. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for affected individuals. Given the genetic nature of these disorders, genetic counseling may also be beneficial for families affected by sulfatase deficiencies.

Sulfatase deficiency, classified under ICD-10 code E75.26, is a rare genetic disorder characterized by the body's inability to produce sufficient sulfatase enzymes. These enzymes are crucial for the breakdown of sulfated compounds, leading to various health issues. Below are alternative names and related terms associated with this condition.

Alternative Names for Sulfatase Deficiency

1. Sulfatase Deficiency Syndrome: This term encompasses the broader spectrum of symptoms and manifestations associated with the deficiency of sulfatase enzymes.

2. Multiple Sulfatase Deficiency (MSD): This is a more specific term that refers to a condition where multiple sulfatases are deficient, leading to a range of metabolic issues.

3. Sulfatase Deficiency Disorder: A general term that can be used interchangeably with sulfatase deficiency, emphasizing the disorder aspect.

4. Sulfatase Enzyme Deficiency: This term highlights the enzymatic nature of the deficiency, focusing on the lack of sulfatase enzymes.

5. Sulfatase Deficiency Disease: Similar to the above, this term emphasizes the disease aspect of the condition.

Related Terms

1. Sphingolipidosis: This is a broader category of lysosomal storage disorders that includes sulfatase deficiency as one of its types. It refers to the accumulation of sphingolipids due to enzyme deficiencies.

2. Lysosomal Storage Disorders: A group of inherited metabolic disorders that result from defects in lysosomal function, which includes sulfatase deficiency among other conditions.

3. Metachromatic Leukodystrophy (MLD): While primarily associated with arylsulfatase A deficiency, MLD is often discussed in the context of sulfatase deficiencies due to overlapping symptoms and metabolic pathways.

4. Fabry Disease: Although primarily caused by a deficiency in alpha-galactosidase A, it is sometimes mentioned in discussions of sulfatase deficiencies due to its related metabolic implications.

5. Genetic Metabolic Disorders: A broader category that includes sulfatase deficiency, highlighting its genetic basis and metabolic consequences.

Conclusion

Understanding the alternative names and related terms for sulfatase deficiency is essential for accurate diagnosis, treatment, and research. These terms not only help in identifying the condition but also in understanding its implications within the broader context of metabolic and genetic disorders. If you need further information on specific aspects of sulfatase deficiency or related conditions, feel free to ask!

Sulfatase deficiency, classified under ICD-10 code E75.26, refers to a group of inherited metabolic disorders characterized by the deficiency of one or more sulfatase enzymes. These enzymes are crucial for the breakdown of sulfated compounds, which are important for various biological processes. The diagnosis of sulfatase deficiency involves several criteria and diagnostic approaches, which can be summarized as follows:

Clinical Criteria

1. Symptoms and Signs:
   - Patients may present with a range of symptoms depending on the specific type of sulfatase deficiency. Common manifestations include developmental delays, neurological issues, skeletal abnormalities, and skin problems. For instance, multiple sulfatase deficiency (MSD) can lead to a combination of symptoms affecting the central nervous system and skeletal system[1].

2. Family History:
   - A detailed family history is essential, as many sulfatase deficiencies are inherited in an autosomal recessive manner. Identifying affected family members can provide clues to the diagnosis[1].

Laboratory Testing

1. Enzyme Activity Assays:
   - The definitive diagnosis of sulfatase deficiency typically involves measuring the activity of specific sulfatase enzymes in blood or tissue samples. Reduced enzyme activity compared to normal ranges is indicative of a deficiency. For example, testing for arylsulfatase A, which is deficient in metachromatic leukodystrophy, can be performed[1].

2. Genetic Testing:
   - Molecular genetic testing can confirm the diagnosis by identifying mutations in the genes responsible for encoding sulfatase enzymes. This is particularly useful for confirming the diagnosis when enzyme activity is borderline or when the clinical presentation is atypical[1].

3. Urine Analysis:
   - Urinary excretion of sulfated compounds may be assessed, as abnormal levels can indicate a sulfatase deficiency. Elevated levels of certain sulfated metabolites can suggest impaired metabolism due to enzyme deficiencies[1].

Imaging Studies

• While imaging studies are not diagnostic for sulfatase deficiency itself, they may be used to assess associated complications or manifestations, such as skeletal abnormalities or neurological changes. MRI or CT scans can help visualize structural changes in the brain or other affected areas[1].

Differential Diagnosis

• It is crucial to differentiate sulfatase deficiency from other metabolic disorders that may present with similar symptoms. This may involve additional biochemical tests and genetic evaluations to rule out conditions such as lysosomal storage disorders or other inherited metabolic diseases[1].

Conclusion

In summary, the diagnosis of sulfatase deficiency (ICD-10 code E75.26) relies on a combination of clinical evaluation, enzyme activity assays, genetic testing, and careful consideration of family history. Early diagnosis is essential for managing symptoms and providing appropriate care, as these conditions can lead to significant morbidity if left untreated. If you suspect sulfatase deficiency, consulting with a specialist in metabolic disorders is recommended for comprehensive evaluation and management.

[1] Contextual information derived from the provided data on sulfatase deficiency and related diagnostic criteria.

Sulfatase deficiency, classified under ICD-10 code E75.26, refers to a group of rare genetic disorders characterized by the deficiency of sulfatase enzymes, which are crucial for the breakdown of sulfated compounds in the body. This condition can lead to a variety of symptoms and complications, depending on the specific type of sulfatase deficiency, such as multiple sulfatase deficiency (MSD) or individual enzyme deficiencies.

Overview of Sulfatase Deficiency

Sulfatases are enzymes that catalyze the hydrolysis of sulfate esters, playing a vital role in the metabolism of glycosaminoglycans (GAGs) and other sulfated compounds. Deficiencies in these enzymes can result in the accumulation of sulfated substrates, leading to cellular dysfunction and a range of clinical manifestations, including developmental delays, skeletal abnormalities, and neurological issues.

Standard Treatment Approaches

1. Enzyme Replacement Therapy (ERT)

Currently, enzyme replacement therapy is one of the most promising treatment options for certain types of sulfatase deficiencies. This approach involves administering the missing or deficient enzyme to help reduce the accumulation of substrates. For example, in cases of multiple sulfatase deficiency, ERT may be explored, although it is still under research and not widely available for all sulfatase deficiencies.

2. Symptomatic Management

Given the complexity and variability of symptoms associated with sulfatase deficiencies, symptomatic management is crucial. This may include:

• Physical Therapy: To improve mobility and strength, especially in patients with skeletal abnormalities or muscle weakness.
• Occupational Therapy: To assist with daily living activities and enhance functional independence.
• Speech Therapy: For patients experiencing communication difficulties due to neurological involvement.
• Psychological Support: Counseling and support groups can be beneficial for patients and families coping with the emotional and psychological impacts of the condition.

3. Nutritional Support

Patients with sulfatase deficiencies may have specific dietary needs. A nutritionist can help design a diet that supports overall health and addresses any metabolic concerns. This may include:

• Balanced Diet: Ensuring adequate intake of vitamins and minerals.
• Hydration: Maintaining proper hydration, especially if there are issues with fluid retention or dehydration.

4. Genetic Counseling

Since sulfatase deficiencies are genetic disorders, genetic counseling is recommended for affected individuals and their families. This can provide insights into inheritance patterns, risks for future pregnancies, and available testing options.

5. Research and Clinical Trials

Ongoing research is crucial for developing new treatments for sulfatase deficiencies. Patients may have the opportunity to participate in clinical trials exploring novel therapies, including gene therapy and advanced enzyme replacement strategies.

Conclusion

Sulfatase deficiency, represented by ICD-10 code E75.26, requires a multifaceted treatment approach tailored to the individual needs of patients. While enzyme replacement therapy shows promise, symptomatic management, nutritional support, and genetic counseling play vital roles in improving the quality of life for those affected. As research progresses, new therapeutic options may emerge, offering hope for better management of this complex condition. For patients and families, staying informed about ongoing research and available support resources is essential for navigating the challenges associated with sulfatase deficiencies.