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ICD-10: E71.111

3-methylglutaconic aciduria

Additional Information

Clinical Information

3-methylglutaconic aciduria, classified under ICD-10 code E71.111, is a rare metabolic disorder characterized by the accumulation of 3-methylglutaconic acid in the body. This condition is part of a group of disorders known as organic acidemias, which arise from defects in the metabolism of certain amino acids and organic acids. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with this condition.

Clinical Presentation

Overview

3-methylglutaconic aciduria is primarily characterized by a range of neurological and systemic symptoms. The clinical presentation can vary significantly among affected individuals, often depending on the specific type of the disorder (e.g., Type I, II, or III) and the age of onset.

Signs and Symptoms

  1. Neurological Symptoms:
    - Developmental Delays: Many children with this condition exhibit delays in reaching developmental milestones, including motor skills and speech[12].
    - Ataxia: Affected individuals may experience coordination problems, leading to difficulties in balance and movement[5].
    - Seizures: Some patients may present with seizures, which can vary in frequency and severity[12].
    - Cognitive Impairment: There may be varying degrees of intellectual disability or cognitive challenges[12].

  2. Hearing Loss:
    - A significant number of patients with 3-methylglutaconic aciduria experience sensorineural hearing loss, which can be profound in some cases[4][12].

  3. Cardiomyopathy:
    - Dilated cardiomyopathy has been reported in some patients, leading to heart-related symptoms such as fatigue, shortness of breath, and swelling in the legs[5].

  4. Other Systemic Symptoms:
    - Fatigue and Weakness: Generalized fatigue and muscle weakness are common complaints among affected individuals[12].
    - Failure to Thrive: Infants may show poor growth and weight gain, which can be attributed to metabolic disturbances[12].

Patient Characteristics

  • Age of Onset: Symptoms often present in infancy or early childhood, although some cases may be diagnosed later in life depending on the severity of symptoms and the type of 3-methylglutaconic aciduria[12].
  • Genetic Background: The condition is 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 and identify specific mutations associated with the disorder[12][14].
  • Gender: There is no significant gender predisposition noted in the literature, as both males and females are equally affected[12].

Conclusion

3-methylglutaconic aciduria is a complex metabolic disorder with a diverse clinical presentation that can significantly impact the quality of life of affected individuals. Early diagnosis and intervention are crucial for managing symptoms and improving outcomes. Genetic counseling may also be beneficial for families affected by this condition, given its hereditary nature. If you suspect a case of 3-methylglutaconic aciduria, it is essential to consult with a healthcare professional for appropriate testing and management strategies.

Approximate Synonyms

3-methylglutaconic aciduria, classified under ICD-10 code E71.111, is a metabolic disorder characterized by the accumulation of 3-methylglutaconic acid in the body. This condition is part of a broader category of disorders related to branched-chain amino acid metabolism. Below are alternative names and related terms associated with this condition.

Alternative Names

  1. 3-Methylglutaconic Aciduria Type III: This is a specific subtype of 3-methylglutaconic aciduria, indicating a particular genetic and clinical presentation.
  2. 3-Methylglutaconuria: This term is sometimes used interchangeably, although it may refer to a broader spectrum of conditions involving 3-methylglutaconic acid.
  3. 3-Methylglutaryl-CoA Lyase Deficiency: This name reflects the enzymatic deficiency that leads to the accumulation of 3-methylglutaconic acid, although it is more commonly associated with other metabolic disorders.
  1. Branched-Chain Amino Acid Metabolism Disorders: This term encompasses a group of metabolic disorders, including 3-methylglutaconic aciduria, that affect the metabolism of branched-chain amino acids.
  2. Organic Acidemias: A broader category that includes various metabolic disorders characterized by the accumulation of organic acids, including 3-methylglutaconic aciduria.
  3. Inherited Metabolic Disorders: This term refers to a range of genetic conditions, including 3-methylglutaconic aciduria, that affect metabolic processes.
  4. Newborn Screening: 3-methylglutaconic aciduria is often included in newborn screening programs to detect metabolic disorders early in life.

Conclusion

Understanding the alternative names and related terms for 3-methylglutaconic aciduria (ICD-10 code E71.111) is essential for healthcare professionals and researchers working in the field of metabolic disorders. These terms help in identifying the condition in various medical contexts, facilitating better diagnosis and management strategies. If you need further information or specific details about this condition, feel free to ask!

Diagnostic Criteria

The diagnosis of 3-methylglutaconic aciduria, represented by the ICD-10 code E71.111, involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Below are the key criteria and methods used for diagnosis:

Clinical Presentation

Patients with 3-methylglutaconic aciduria may present with a variety of symptoms, which can include:

  • Neurological Symptoms: These may include developmental delays, hypotonia (decreased muscle tone), and seizures.
  • Metabolic Symptoms: Some patients may exhibit metabolic crises, which can manifest as vomiting, lethargy, or failure to thrive.
  • Other Symptoms: Additional features may include muscle weakness and recurrent infections.

Biochemical Testing

The diagnosis is primarily confirmed through biochemical tests that detect elevated levels of specific metabolites in the urine. Key tests include:

  • Urine Organic Acid Analysis: This test typically shows increased levels of 3-methylglutaconic acid, which is a hallmark of the disorder. The presence of other metabolites, such as 3-hydroxyisovaleric acid, may also be noted.
  • Plasma Amino Acid Analysis: This may help rule out other metabolic disorders and assess the overall amino acid profile.

Genetic Testing

Genetic testing plays a crucial role in confirming the diagnosis of 3-methylglutaconic aciduria. The following steps are typically involved:

  • Mutation Analysis: Genetic testing can identify mutations in the AUH gene, which is associated with the disorder. This gene is responsible for encoding the enzyme involved in the metabolism of certain amino acids.
  • Family History: A detailed family history may provide insights into the inheritance pattern, as 3-methylglutaconic aciduria is often inherited in an autosomal recessive manner.

Newborn Screening

In some regions, newborn screening programs may include tests for metabolic disorders, including 3-methylglutaconic aciduria. Early detection through screening can lead to timely intervention and management.

Conclusion

The diagnosis of 3-methylglutaconic aciduria (ICD-10 code E71.111) is a multifaceted process that combines clinical assessment, biochemical testing, and genetic analysis. Early diagnosis is crucial for managing symptoms and improving outcomes for affected individuals. If you suspect a case of 3-methylglutaconic aciduria, it is essential to consult with a healthcare professional specializing in metabolic disorders for appropriate testing and management.

Description

3-methylglutaconic aciduria, classified under ICD-10 code E71.111, is a rare inherited metabolic disorder characterized by the accumulation of 3-methylglutaconic acid in the urine. This condition is part of a broader group of organic acidemias, which are metabolic disorders that result from the body's inability to properly break down certain amino acids and fatty acids.

Clinical Features

Symptoms

Individuals with 3-methylglutaconic aciduria may present with a variety of symptoms, which can vary significantly in severity. Common clinical manifestations include:

  • Neurological Issues: Patients may experience developmental delays, hypotonia (decreased muscle tone), and seizures. Some may also exhibit signs of cognitive impairment.
  • Muscle Weakness: Muscle weakness and fatigue are prevalent, often leading to difficulties in physical activities.
  • Growth Retardation: Children may show delayed growth and development compared to their peers.
  • Metabolic Crises: In some cases, patients may experience acute metabolic crises, which can be life-threatening and require immediate medical attention.

Diagnosis

Diagnosis of 3-methylglutaconic aciduria typically involves:

  • Urine Analysis: Elevated levels of 3-methylglutaconic acid in the urine are indicative of the disorder. This is often detected through specialized metabolic screening tests.
  • Genetic Testing: Identification of mutations in the genes associated with the disorder can confirm the diagnosis. The most common genetic cause is mutations in the TACSTD2 gene, which is involved in the metabolism of certain amino acids.

Pathophysiology

The underlying mechanism of 3-methylglutaconic aciduria involves a defect in the mitochondrial metabolism of leucine, an essential amino acid. This defect leads to the accumulation of 3-methylglutaconic acid, which is toxic at high levels and contributes to the clinical symptoms observed in affected individuals.

Management and Treatment

Management of 3-methylglutaconic aciduria is primarily supportive and may include:

  • Dietary Modifications: A low-protein diet may be recommended to reduce the intake of leucine and other amino acids that could exacerbate the condition.
  • Supplementation: In some cases, supplementation with specific nutrients may be beneficial, although this should be tailored to the individual’s needs.
  • Monitoring: Regular follow-up with metabolic specialists is crucial to monitor growth, development, and metabolic status.

Prognosis

The prognosis for individuals with 3-methylglutaconic aciduria varies widely. Early diagnosis and intervention can improve outcomes, but some patients may experience significant long-term neurological deficits. Ongoing research is essential to better understand the condition and develop more effective treatments.

In summary, 3-methylglutaconic aciduria (ICD-10 code E71.111) is a complex metabolic disorder that requires a multidisciplinary approach for management and care. Early detection through newborn screening and appropriate dietary management can significantly impact the quality of life for affected individuals.

Treatment Guidelines

3-methylglutaconic aciduria, classified under ICD-10 code E71.111, is a rare metabolic disorder characterized by the accumulation of 3-methylglutaconic acid in the body. This condition is often associated with various clinical manifestations, including neurological issues, muscle weakness, and developmental delays. Given its complexity, treatment approaches are tailored to the individual patient and may involve a multidisciplinary team.

Standard Treatment Approaches

1. Dietary Management

One of the primary treatment strategies for 3-methylglutaconic aciduria involves dietary modifications. Patients are often advised to follow a low-protein diet to reduce the intake of amino acids that may exacerbate the condition. This dietary restriction helps minimize the production of toxic metabolites, including 3-methylglutaconic acid. In some cases, specialized medical foods or supplements may be recommended to ensure adequate nutrition while limiting harmful substances[1][2].

2. Symptomatic Treatment

Symptomatic treatment is crucial in managing the various manifestations of the disorder. This may include:

  • Physical Therapy: To address muscle weakness and improve motor function, physical therapy can be beneficial. Tailored exercise programs help enhance strength and mobility[3].
  • Occupational Therapy: This therapy focuses on improving daily living skills and promoting independence in patients, particularly those with developmental delays[3].
  • Speech Therapy: For patients experiencing speech and language difficulties, speech therapy can aid in communication skills development[3].

3. Neurological Management

Given the neurological implications of 3-methylglutaconic aciduria, regular neurological assessments are essential. In some cases, medications may be prescribed to manage seizures or other neurological symptoms that may arise due to the disorder[4].

4. Genetic Counseling

As 3-methylglutaconic aciduria is a genetic disorder, genetic counseling is recommended for affected individuals and their families. This counseling can provide insights into the inheritance patterns, risks for future pregnancies, and the implications of the disorder for family members[5].

5. Regular Monitoring

Ongoing monitoring of metabolic parameters is vital for patients with 3-methylglutaconic aciduria. Regular follow-ups with metabolic specialists can help track the progression of the disorder and adjust treatment plans as necessary. This may include routine blood tests to monitor levels of metabolites and assess overall health[6].

Conclusion

The management of 3-methylglutaconic aciduria requires a comprehensive and individualized approach, focusing on dietary management, symptomatic treatment, and regular monitoring. Collaboration among healthcare providers, including dietitians, therapists, and genetic counselors, is essential to optimize patient outcomes. As research continues, advancements in treatment strategies may further enhance the quality of life for individuals affected by this rare metabolic disorder.

Related Information

Clinical Information

  • Developmental delays in children
  • Neurological symptoms such as ataxia
  • Seizures may occur in some patients
  • Cognitive impairment or intellectual disability
  • Sensorineural hearing loss is common
  • Dilated cardiomyopathy can lead to heart problems
  • Fatigue and weakness are frequent complaints
  • Failure to thrive in infants due to metabolic issues
  • Symptoms often present in infancy or early childhood
  • Condition is inherited in an autosomal recessive manner

Approximate Synonyms

  • 3-Methylglutaconic Aciduria Type III
  • 3-Methylglutaconuria
  • 3-Methylglutaryl-CoA Lyase Deficiency
  • Branched-Chain Amino Acid Metabolism Disorders
  • Organic Acidemias
  • Inherited Metabolic Disorders

Diagnostic Criteria

  • Elevated 3-methylglutaconic acid levels
  • Neurological symptoms like developmental delays
  • Hypotonia and seizures present
  • Metabolic crises with vomiting or lethargy
  • Increased risk of recurrent infections
  • AUTH gene mutation analysis positive
  • Family history of autosomal recessive inheritance

Description

  • Rare inherited metabolic disorder
  • Accumulation of 3-methylglutaconic acid
  • Inability to break down amino acids
  • Muscle weakness and fatigue common
  • Growth retardation and developmental delays
  • Neurological issues including seizures
  • Life-threatening metabolic crises possible

Treatment Guidelines

  • Low-protein diet to reduce toxic metabolites
  • Physical therapy to address muscle weakness
  • Occupational therapy for daily living skills
  • Speech therapy for communication difficulties
  • Medications for neurological symptoms management
  • Genetic counseling for inheritance patterns and risks
  • Regular monitoring of metabolic parameters

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