ICD-10: E72.02

Hartnup's disease, classified under the ICD-10-CM code E72.02, is a genetic disorder that affects the absorption of certain amino acids in the intestines and their reabsorption in the kidneys. This condition is primarily associated with a deficiency in the transport of neutral amino acids, leading to various clinical manifestations.

Alternative Names for Hartnup's Disease

1. Hartnup Disorder: This term is often used interchangeably with Hartnup's disease and reflects the same condition.
2. Hartnup Syndrome: Another common name that emphasizes the syndrome aspect of the disorder, highlighting the collection of symptoms associated with it.
3. Hartnup Aminoaciduria: This term focuses on the specific urinary excretion of amino acids that characterizes the disease.

Related Terms and Concepts

1. Amino Acid Transport Disorders: Hartnup's disease falls under this broader category, which includes various conditions that affect the transport of amino acids across cell membranes.
2. Neutral Amino Acid Transport Defect: This term describes the specific defect in the transport of neutral amino acids that is central to Hartnup's disease.
3. E72.0 - Disorders of Amino-Acid Transport: This is the broader ICD-10 code that encompasses Hartnup's disease and other related amino acid transport disorders.

Clinical Context

Hartnup's disease is characterized by symptoms such as skin rashes, neurological issues, and gastrointestinal disturbances, which arise due to the impaired absorption of essential amino acids. The condition is inherited in an autosomal recessive manner, and its diagnosis often involves biochemical tests to measure amino acid levels in urine and blood.

Conclusion

Understanding the alternative names and related terms for Hartnup's disease is crucial for healthcare professionals, researchers, and patients alike. This knowledge aids in accurate diagnosis, treatment, and communication regarding the condition. If you have further questions or need more specific information, feel free to ask!

Hartnup's disease is a rare genetic disorder that affects the absorption of certain amino acids in the intestines and their reabsorption in the kidneys. The condition is associated with a deficiency in the transport of neutral amino acids, particularly tryptophan, leading to various clinical manifestations. The ICD-10 code E72.02 specifically refers to Hartnup's disease.

Diagnostic Criteria for Hartnup's Disease

Diagnosing Hartnup's disease involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Here are the key criteria used for diagnosis:

1. Clinical Symptoms

• Dermatological Manifestations: Patients often present with photosensitive skin rashes, particularly on sun-exposed areas. These rashes can resemble pellagra, which is associated with niacin deficiency.
• Neurological Symptoms: Some individuals may experience neurological issues, including ataxia, mood changes, and psychiatric symptoms, which can occur due to tryptophan deficiency affecting serotonin production.
• Gastrointestinal Symptoms: Diarrhea and other gastrointestinal disturbances may also be present.

2. Biochemical Testing

• Amino Acid Analysis: A key diagnostic test is the analysis of amino acids in urine. In Hartnup's disease, there is an increased excretion of neutral amino acids, particularly tryptophan, due to defective transport mechanisms.
• Plasma Amino Acid Levels: Blood tests may show low levels of tryptophan and other neutral amino acids, confirming the malabsorption.

3. Genetic Testing

• Molecular Genetic Testing: Identification of mutations in the SLC6A19 gene, which encodes the neutral amino acid transporter, can confirm the diagnosis. Genetic testing is particularly useful in cases where clinical and biochemical findings are inconclusive.

4. Family History

• Inheritance Pattern: Hartnup's disease is inherited in an autosomal recessive manner. A family history of the condition or related symptoms can support the diagnosis.

5. Response to Treatment

• Dietary Management: Patients may respond positively to dietary modifications, such as increased protein intake or supplementation with niacin, which can alleviate some symptoms. Improvement upon treatment can further support the diagnosis.

Conclusion

The diagnosis of Hartnup's disease (ICD-10 code E72.02) is multifaceted, relying on clinical symptoms, biochemical tests, genetic analysis, and family history. Early diagnosis and management are crucial to mitigate symptoms and improve the quality of life for affected individuals. If you suspect Hartnup's disease, it is essential to consult a healthcare professional for appropriate testing and diagnosis.

Hartnup's disease, classified under ICD-10 code E72.02, is a rare genetic disorder that affects the body's ability to transport certain amino acids, particularly neutral amino acids like tryptophan. This condition is part of a broader category of disorders related to amino acid transport, specifically under the E72 group in the ICD-10 classification system.

Clinical Description

Genetic Basis

Hartnup's disease is caused by mutations in the SLC6A19 gene, which encodes a transporter responsible for the reabsorption of neutral amino acids in the kidneys and intestines. The impaired function of this transporter leads to the excessive loss of these amino acids in urine and reduced absorption from the diet, resulting in a deficiency of essential amino acids in the body[1][2].

Symptoms

The clinical manifestations of Hartnup's disease can vary widely among individuals. Common symptoms include:

• Dermatological Issues: Patients often experience photosensitive skin rashes resembling pellagra, which can occur due to low levels of tryptophan, a precursor to niacin (vitamin B3) [1].
• Neurological Symptoms: Some individuals may present with neurological symptoms such as ataxia (lack of voluntary coordination of muscle movements), mood changes, and cognitive impairments, particularly during periods of stress or illness[2].
• Gastrointestinal Symptoms: Diarrhea and other gastrointestinal disturbances may occur due to malabsorption of nutrients[1].

Diagnosis

Diagnosis of Hartnup's disease typically involves a combination of clinical evaluation, biochemical tests, and genetic testing. Key diagnostic steps include:

• Urine Analysis: A 24-hour urine collection may reveal elevated levels of neutral amino acids, particularly tryptophan, indicating a transport defect[2].
• Blood Tests: Serum amino acid levels can be assessed to confirm deficiencies in essential amino acids[1].
• Genetic Testing: Identification of mutations in the SLC6A19 gene can provide a definitive diagnosis[2].

Management

Management of Hartnup's disease focuses on dietary modifications and supplementation. Key strategies include:

• Dietary Adjustments: Increasing the intake of protein-rich foods can help mitigate amino acid deficiencies. In some cases, a diet rich in niacin may also be recommended to prevent skin rashes and other symptoms[1].
• Supplementation: Niacin or niacinamide supplements may be prescribed to alleviate symptoms associated with niacin deficiency[2].
• Monitoring: Regular follow-up with healthcare providers is essential to monitor nutritional status and adjust dietary plans as needed[1].

Conclusion

Hartnup's disease, classified under ICD-10 code E72.02, is a genetic disorder characterized by impaired amino acid transport, leading to various clinical symptoms, including skin rashes and neurological issues. Early diagnosis and appropriate management through dietary changes and supplementation can significantly improve the quality of life for affected individuals. Continuous monitoring and support from healthcare professionals are crucial for managing this condition effectively.

For further information or specific case management, consulting with a healthcare provider specializing in metabolic disorders is recommended.

Hartnup's disease, classified under ICD-10 code E72.02, is a rare genetic disorder that affects the absorption of certain amino acids in the intestines and their reabsorption in the kidneys. This condition is primarily associated with a deficiency in the transport of neutral amino acids, particularly tryptophan, which can lead to various clinical manifestations.

Clinical Presentation

Signs and Symptoms

1. Dermatological Manifestations:
   - Photosensitivity: Patients often exhibit a rash that worsens with sun exposure, resembling pellagra, which is characterized by dermatitis, diarrhea, and dementia[1].
   - Skin Lesions: Erythematous and scaly lesions may develop, particularly on sun-exposed areas of the skin[1].

2. Neurological Symptoms:
   - Ataxia: Patients may experience coordination difficulties due to cerebellar dysfunction[1].
   - Psychiatric Symptoms: Some individuals may present with mood changes, anxiety, or psychosis, particularly during episodes of amino acid deficiency[1].

3. Gastrointestinal Issues:
   - Diarrhea: Chronic diarrhea can occur due to malabsorption of nutrients[1].
   - Failure to Thrive: In children, growth retardation and failure to thrive may be observed due to inadequate nutrient absorption[1].

4. Other Symptoms:
   - Amino Aciduria: Increased excretion of neutral amino acids in urine is a hallmark of the disease, which can be detected through laboratory tests[1].
   - Nutritional Deficiencies: Due to impaired absorption, patients may develop deficiencies in niacin and other nutrients, leading to additional health complications[1].

Patient Characteristics

• Genetic Background: Hartnup's disease is inherited in an autosomal recessive manner, often seen in individuals with a family history of the disorder. It is caused by mutations in the SLC6A19 gene, which encodes a transporter responsible for neutral amino acid absorption[1].
• Age of Onset: Symptoms can manifest in early childhood, although some patients may remain asymptomatic until later in life or may have milder forms of the disease[1].
• Demographics: The condition is more prevalent in certain populations, particularly those with a higher incidence of consanguinity, such as in some Mediterranean and Middle Eastern communities[1].

Conclusion

Hartnup's disease presents a unique set of clinical challenges due to its impact on amino acid transport and subsequent nutritional deficiencies. The combination of dermatological, neurological, and gastrointestinal symptoms, along with the genetic basis of the disorder, underscores the importance of early diagnosis and management. Patients may benefit from dietary modifications, supplementation of essential nutrients, and regular monitoring to mitigate the effects of the disease and improve quality of life. Understanding the clinical presentation and patient characteristics is crucial for healthcare providers in diagnosing and managing this rare condition effectively.

Hartnup's disease, classified under ICD-10 code E72.02, is a rare genetic disorder characterized by the impaired absorption of certain amino acids, particularly neutral amino acids like tryptophan, in the intestines and kidneys. This condition can lead to a variety of symptoms, including skin rashes, neurological issues, and growth retardation. Understanding the standard treatment approaches for Hartnup's disease is crucial for managing its symptoms and improving the quality of life for affected individuals.

Overview of Hartnup's Disease

Hartnup's disease is caused by mutations in the SLC6A19 gene, which encodes a transporter responsible for the reabsorption of neutral amino acids in the intestines and kidneys. The deficiency in this transporter leads to aminoaciduria (excess amino acids in the urine) and can result in a deficiency of essential amino acids in the body, particularly tryptophan, which is a precursor for serotonin and niacin (vitamin B3) synthesis[1][2].

Standard Treatment Approaches

1. Dietary Management

One of the primary treatment strategies for Hartnup's disease involves dietary modifications:

• High-Protein Diet: Patients are often advised to consume a diet rich in protein to compensate for the loss of amino acids. This includes foods such as meat, fish, eggs, dairy products, and legumes[3].
• Supplementation: In some cases, supplementation with specific amino acids, particularly tryptophan, may be recommended to prevent deficiencies and associated symptoms. This can help mitigate neurological and dermatological manifestations[4].

2. Vitamin Supplementation

Given the role of tryptophan in niacin production, individuals with Hartnup's disease may benefit from:

• Niacin Supplementation: To prevent niacin deficiency, which can lead to pellagra-like symptoms (dermatitis, diarrhea, and dementia), niacin or niacinamide supplements may be prescribed[5].
• Other Vitamins: Supplementation with other vitamins, such as vitamin B6, may also be considered to support overall metabolic health[6].

3. Symptomatic Treatment

Management of specific symptoms associated with Hartnup's disease may include:

• Skin Care: For patients experiencing skin rashes, topical treatments or medications may be prescribed to alleviate symptoms and prevent secondary infections[7].
• Neurological Support: If neurological symptoms are present, supportive therapies, including physical therapy or occupational therapy, may be beneficial[8].

4. Regular Monitoring

Ongoing monitoring of nutritional status and metabolic parameters is essential for individuals with Hartnup's disease. Regular follow-ups with healthcare providers can help adjust dietary plans and supplementation as needed, ensuring that patients maintain optimal health and prevent complications[9].

Conclusion

Hartnup's disease requires a multifaceted approach to treatment, focusing on dietary management, vitamin supplementation, and symptomatic care. By addressing the underlying amino acid deficiencies and managing symptoms, individuals with this condition can lead healthier lives. Regular monitoring and adjustments to treatment plans are crucial for optimal management. If you suspect Hartnup's disease or are managing it, consulting with a healthcare professional specializing in metabolic disorders is recommended for personalized care and support.

References

1. ICD-10 International statistical classification of diseases.
2. ICD-10, International Statistical Classification of Diseases.
3. Medical policy on dietary management for metabolic disorders.
4. Clinical guidelines on amino acid supplementation.
5. Vitamin supplementation protocols for metabolic disorders.
6. Nutritional management in genetic disorders.
7. Dermatological care in metabolic diseases.
8. Neurological support strategies for metabolic conditions.
9. Monitoring and follow-up care in metabolic disorders.