ICD-10: E74.31

Sucrase-isomaltase deficiency (SID) is a rare genetic disorder that affects the digestion of certain carbohydrates. It is classified under the ICD-10 code E74.31. Below is a detailed clinical description and relevant information regarding this condition.

Overview of Sucrase-Isomaltase Deficiency

Sucrase-isomaltase deficiency is characterized by the inability to properly digest sucrose and isomaltose due to a deficiency in the enzyme sucrase-isomaltase. This enzyme is crucial for breaking down these sugars into simpler forms that can be absorbed by the body. The deficiency leads to gastrointestinal symptoms, particularly after the ingestion of foods containing sucrose or starch.

Clinical Presentation

Symptoms

Patients with sucrase-isomaltase deficiency typically present with a range of gastrointestinal symptoms, which may include:

• Diarrhea: Frequent, watery stools are common, particularly after consuming sucrose-rich foods.
• Abdominal pain: Cramping and discomfort can occur due to undigested sugars fermenting in the intestines.
• Bloating and gas: The fermentation process can lead to excessive gas production, resulting in bloating.
• Failure to thrive: In infants and young children, the inability to absorb nutrients can lead to poor growth and weight gain.

Onset

Symptoms often manifest in infancy or early childhood, particularly when sucrose-containing foods are introduced into the diet. In some cases, symptoms may not appear until later in childhood or even adulthood, depending on dietary habits and the severity of the enzyme deficiency.

Diagnosis

Diagnostic Tests

Diagnosis of sucrase-isomaltase deficiency typically involves:

• Clinical evaluation: A thorough history and physical examination to assess symptoms and dietary habits.
• Breath tests: Hydrogen breath tests can help determine carbohydrate malabsorption.
• Genetic testing: Identifying mutations in the sucrase-isomaltase gene (SI) can confirm the diagnosis.

Differential Diagnosis

It is important to differentiate SID from other conditions that cause similar gastrointestinal symptoms, such as:

• Lactose intolerance
• Celiac disease
• Other carbohydrate malabsorption syndromes

Management and Treatment

Dietary Modifications

The primary treatment for sucrase-isomaltase deficiency involves dietary management:

• Restriction of sucrose and isomaltose: Patients are advised to avoid foods high in sucrose, such as table sugar, sweets, and certain fruits.
• Use of alternative sweeteners: Sugar substitutes that do not contain sucrose can be used.

Enzyme Replacement Therapy

In some cases, enzyme replacement therapy with sacrosidase (brand name Sucraid) may be recommended to help digest sucrose and isomaltose, allowing for better nutrient absorption and reducing gastrointestinal symptoms.

Prognosis

With appropriate dietary management and, if necessary, enzyme replacement therapy, individuals with sucrase-isomaltase deficiency can lead healthy lives. Early diagnosis and intervention are crucial to prevent complications associated with malnutrition and to improve quality of life.

Conclusion

Sucrase-isomaltase deficiency is a manageable condition with proper dietary adjustments and potential enzyme therapy. Awareness of the symptoms and early diagnosis can significantly enhance the quality of life for affected individuals. If you suspect this condition, consulting a healthcare provider for appropriate testing and management is essential.

Sucrase-isomaltase deficiency (SID) is a genetic disorder that affects the digestion of certain carbohydrates, particularly sucrose and isomaltose. The ICD-10-CM code for this condition is E74.31. Below are alternative names and related terms associated with this condition.

Alternative Names for Sucrase-Isomaltase Deficiency

1. Congenital Sucrase-Isomaltase Deficiency: This term emphasizes that the condition is present from birth and is often used in clinical settings.

2. Hereditary Sucrase-Isomaltase Deficiency: This name highlights the genetic nature of the disorder, indicating that it is inherited.

3. Carbohydrate Malabsorption Syndrome: This broader term can refer to various conditions, including SID, where the body cannot properly absorb carbohydrates.

4. Disaccharidase Deficiency: This term refers to a group of conditions where the body lacks specific enzymes needed to digest disaccharides, including sucrase-isomaltase deficiency.

5. Isomaltase Deficiency: While this term specifically refers to the deficiency of the isomaltase enzyme, it is often used interchangeably with sucrase-isomaltase deficiency.

Related Terms

1. E74 - Other Disorders of Carbohydrate Metabolism: This is the broader category under which E74.31 falls, encompassing various carbohydrate metabolism disorders.

2. Intestinal Carbohydrate Malabsorption: This term describes the general condition where the intestines cannot absorb carbohydrates effectively, which includes SID.

3. Enzyme Deficiency: A general term that can apply to SID, indicating a lack of necessary enzymes for digestion.

4. Genetic Metabolic Disorder: This term categorizes SID as a metabolic disorder caused by genetic factors.

5. Digestive Enzyme Deficiency: This term encompasses various conditions, including SID, where the body lacks specific digestive enzymes.

Conclusion

Understanding the alternative names and related terms for sucrase-isomaltase deficiency can aid in better communication among healthcare providers and patients. It is essential for accurate diagnosis, treatment, and management of the condition. If you have further questions or need more specific information, feel free to ask!

Sucrase-isomaltase deficiency (SID) is a rare genetic disorder that affects the digestion of certain carbohydrates, particularly sucrose and isomaltose. The diagnosis of this condition is primarily based on clinical symptoms, biochemical tests, and genetic analysis. Below are the key criteria used for diagnosing SID, which corresponds to the ICD-10-CM code E74.31.

Clinical Symptoms

Patients with sucrase-isomaltase deficiency typically present with a range of gastrointestinal symptoms, particularly after the ingestion of sucrose or isomaltose-containing foods. Common symptoms include:

• Diarrhea: Frequent, watery stools are a hallmark of the condition, often occurring shortly after consuming sucrose.
• Abdominal Pain: Cramping and discomfort in the abdominal area can occur due to undigested carbohydrates fermenting in the intestines.
• Bloating and Gas: Excessive gas production and bloating are common due to fermentation of undigested sugars by intestinal bacteria.
• Failure to Thrive: In infants and young children, inadequate weight gain and growth may be observed due to malabsorption of nutrients.

Diagnostic Testing

Sucrose Challenge Test

One of the primary diagnostic tools for SID is the sucrose challenge test. This test involves:

1. Administration of Sucrose: The patient is given a specific amount of sucrose to consume.
2. Monitoring Symptoms: After ingestion, the patient is monitored for the onset of gastrointestinal symptoms.
3. Biochemical Analysis: Blood and stool samples may be collected to assess the levels of glucose and fructose, as well as to evaluate the presence of undigested sugars in the stool.

Enzyme Activity Testing

• Enzyme Assays: Measurement of sucrase-isomaltase enzyme activity in intestinal biopsy samples can confirm the diagnosis. A significant reduction in enzyme activity is indicative of SID.

Genetic Testing

• Genetic Analysis: Identification of mutations in the SI gene, which encodes the sucrase-isomaltase enzyme, can provide definitive confirmation of the diagnosis. Genetic testing is particularly useful in cases where the clinical presentation is ambiguous.

Differential Diagnosis

It is essential to differentiate SID from other conditions that may present with similar symptoms, such as:

• Other Carbohydrate Malabsorption Disorders: Conditions like lactase deficiency or other enzyme deficiencies should be ruled out.
• Irritable Bowel Syndrome (IBS): Symptoms may overlap, but IBS typically does not involve malabsorption.
• Celiac Disease: This autoimmune disorder can also cause gastrointestinal symptoms but is associated with different pathophysiology.

Conclusion

The diagnosis of sucrase-isomaltase deficiency (ICD-10-CM code E74.31) relies on a combination of clinical evaluation, specific diagnostic tests, and genetic analysis. Early diagnosis is crucial for managing symptoms and improving the quality of life for affected individuals. If you suspect SID, it is advisable to consult a healthcare professional for appropriate testing and management strategies.

Sucrase-isomaltase deficiency (SID), classified under ICD-10 code E74.31, is a rare genetic disorder that affects the digestion of certain carbohydrates, particularly sucrose and isomaltose. Individuals with this condition lack the enzyme sucrase-isomaltase, which is essential for breaking down these sugars into simpler forms that can be absorbed by the body. The following sections outline standard treatment approaches for managing this condition.

Dietary Management

Low-Sucrose Diet

The cornerstone of treatment for sucrase-isomaltase deficiency is the implementation of a low-sucrose diet. This involves avoiding foods high in sucrose, such as:

• Table sugar
• Sweetened beverages
• Certain fruits (e.g., apples, pears)
• Sweets and desserts

Patients are encouraged to read food labels carefully to identify hidden sources of sucrose and isomaltose.

Alternative Carbohydrate Sources

Individuals with SID can consume carbohydrates that do not require sucrase-isomaltase for digestion. These include:

• Glucose
• Lactose (found in dairy products)
• Starch-based foods (e.g., rice, potatoes, corn)

Incorporating these alternatives helps maintain nutritional balance while avoiding symptoms associated with sucrose consumption.

Enzyme Replacement Therapy

While there is currently no enzyme replacement therapy specifically approved for sucrase-isomaltase deficiency, some studies suggest that enzyme supplements may help in certain cases. These supplements can assist in the digestion of carbohydrates, although their effectiveness can vary among individuals. Consultation with a healthcare provider is essential to determine the appropriateness of such therapies.

Nutritional Counseling

Professional Guidance

Engaging with a registered dietitian or nutritionist who specializes in metabolic disorders can be beneficial. They can provide personalized dietary plans, ensuring that patients receive adequate nutrition while managing their condition. This includes:

• Monitoring growth and development in children
• Addressing any nutritional deficiencies
• Offering strategies for meal planning and preparation

Symptomatic Treatment

Managing Gastrointestinal Symptoms

Patients with sucrase-isomaltase deficiency may experience gastrointestinal symptoms such as bloating, diarrhea, and abdominal pain after consuming sucrose. Symptomatic treatment may include:

• Antidiarrheal medications
• Probiotics to support gut health
• Medications to alleviate abdominal discomfort

These treatments should be discussed with a healthcare provider to ensure they are appropriate for the individual's specific symptoms.

Genetic Counseling

Since sucrase-isomaltase deficiency is a genetic disorder, genetic counseling may be recommended for affected individuals and their families. This can provide insights into the inheritance patterns, risks for future children, and support resources available for managing the condition.

Conclusion

In summary, the management of sucrase-isomaltase deficiency primarily revolves around dietary modifications to avoid sucrose and isomaltose, along with supportive therapies to address symptoms. Ongoing collaboration with healthcare professionals, including dietitians and genetic counselors, is crucial for optimizing treatment and improving the quality of life for individuals affected by this condition. Regular follow-ups can help monitor dietary adherence and nutritional status, ensuring comprehensive care.