ICD-10: E71.313

Glutaric aciduria type II, classified under ICD-10 code E71.313, is a rare metabolic disorder characterized by the body's inability to properly break down certain fats and proteins. This condition can lead to the accumulation of glutaric acid and other related compounds in the body, which can cause various health issues. The diagnosis of glutaric aciduria type II typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Below are the key criteria used for diagnosis:

Clinical Presentation

1. Symptoms: Patients may present with a range of symptoms, including:
   - Hypotonia (decreased muscle tone)
   - Developmental delays
   - Episodes of metabolic crisis, which can include vomiting, lethargy, and seizures
   - Possible neurological symptoms, such as movement disorders or dystonia

2. Family History: A family history of metabolic disorders may raise suspicion for glutaric aciduria type II, as it is inherited in an autosomal recessive pattern.

Biochemical Testing

1. Urine Organic Acid Analysis: The presence of elevated levels of glutaric acid and other related organic acids in the urine is a hallmark of glutaric aciduria type II. This is typically assessed through gas chromatography-mass spectrometry (GC-MS).

2. Plasma Acylcarnitine Profile: An abnormal acylcarnitine profile may be observed, particularly elevated levels of specific acylcarnitines associated with fatty acid oxidation disorders.

3. Enzyme Activity Assays: Measurement of the activity of the enzymes involved in fatty acid oxidation, particularly the electron transfer flavoprotein (ETF) and ETF dehydrogenase, can help confirm the diagnosis.

Genetic Testing

1. Molecular Genetic Testing: Identification of mutations in the ETFA or ETFB genes, which encode the electron transfer flavoprotein and its dehydrogenase, respectively, is crucial for confirming the diagnosis. Genetic testing can provide definitive evidence of glutaric aciduria type II.

Imaging Studies

1. Neuroimaging: In some cases, MRI may be performed to assess for any neurological changes or damage, particularly if the patient has experienced metabolic crises or neurological symptoms.

Conclusion

The diagnosis of glutaric aciduria type II (ICD-10 code E71.313) relies on a comprehensive approach that includes clinical evaluation, biochemical testing, genetic analysis, and, when necessary, imaging studies. Early diagnosis is critical for managing the condition effectively and preventing complications. If you suspect glutaric aciduria type II, it is essential to consult with a healthcare professional specializing in metabolic disorders for appropriate testing and management.

Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency, is a rare metabolic disorder characterized by the body's inability to properly break down certain fats and proteins. This condition is associated with the accumulation of glutaric acid and other toxic metabolites, leading to various health complications. The management of GA II typically involves a combination of dietary interventions, supplementation, and supportive therapies.

Standard Treatment Approaches

1. Dietary Management

Dietary management is a cornerstone of treatment for individuals with GA II. The primary goals are to minimize the intake of long-chain fatty acids and to provide adequate nutrition. Key components include:

• Low-Fat Diet: Patients are often placed on a low-fat diet to reduce the intake of long-chain fatty acids, which the body cannot metabolize effectively. This may involve limiting foods high in fats, such as oils, butter, and fatty meats.
• Medium-Chain Triglycerides (MCTs): MCTs are often included in the diet as they can be metabolized more easily and provide a source of energy without the complications associated with long-chain fatty acids. MCT oil can be used as a supplement to help meet caloric needs.
• Protein Management: The intake of protein may be restricted or carefully managed, particularly proteins that are high in certain amino acids that can exacerbate the condition. Specialized medical foods may be used to ensure adequate protein intake without the harmful effects.

2. Supplementation

In addition to dietary modifications, supplementation plays a crucial role in managing GA II:

• Carnitine Supplementation: L-carnitine is often prescribed to help facilitate the transport of fatty acids into the mitochondria for energy production. This can help reduce the accumulation of toxic metabolites.
• Vitamins and Minerals: Patients may require additional vitamins and minerals, particularly those involved in energy metabolism, to support overall health and metabolic function.

3. Monitoring and Supportive Care

Regular monitoring and supportive care are essential components of managing GA II:

• Regular Medical Check-ups: Patients should have regular follow-ups with a metabolic specialist to monitor their condition, adjust dietary plans, and manage any complications that may arise.
• Emergency Protocols: Families and caregivers should be educated on recognizing signs of metabolic crises, which can occur during periods of illness or stress. Emergency protocols may include hospitalization and intravenous fluids to manage acute episodes.

4. Genetic Counseling

Since GA II is a genetic disorder, genetic counseling is recommended for affected individuals and their families. This can provide valuable information regarding inheritance patterns, risks for future pregnancies, and support resources.

Conclusion

The management of glutaric aciduria type II requires a comprehensive approach that includes dietary modifications, supplementation, and ongoing medical support. Early diagnosis and intervention are crucial for improving outcomes and quality of life for individuals with this condition. Regular monitoring and education for families are also vital to ensure effective management and to prevent metabolic crises. As research continues, advancements in treatment options may further enhance care for those affected by GA II.

Glutaric aciduria type II, classified under the ICD-10-CM code E71.313, is a metabolic disorder characterized by the body's inability to properly break down certain amino acids, particularly lysine and hydroxylysine. This condition is part of a broader category of disorders related to lysine metabolism. Below are alternative names and related terms associated with Glutaric aciduria type II.

Alternative Names

1. Glutaric Aciduria Type II: This is the most commonly used name and is often referred to in medical literature.
2. Lysine Hydroxylase Deficiency: This term highlights the specific enzymatic deficiency involved in the disorder.
3. Glutaric Acidemia Type II: While this term is less common, it may be used interchangeably in some contexts.
4. Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): This broader term encompasses several related metabolic disorders, including Glutaric aciduria type II, due to the involvement of multiple acyl-CoA dehydrogenases.

Related Terms

1. ICD-10 Code E71.313: The specific code used for billing and classification in medical records.
2. Amino Acid Metabolism Disorders: A category that includes various metabolic disorders affecting amino acid breakdown.
3. Organic Acidemias: A group of metabolic disorders characterized by the accumulation of organic acids in the body, which includes Glutaric aciduria type II.
4. Newborn Screening: Refers to the tests conducted shortly after birth to detect metabolic disorders, including Glutaric aciduria type II, which can be identified through specific screening codes.
5. Lysine and Hydroxylysine Metabolism Disorders: This term encompasses a range of conditions related to the metabolism of these specific amino acids, including Glutaric aciduria type II.

Conclusion

Understanding the alternative names and related terms for Glutaric aciduria type II is essential for healthcare professionals involved in diagnosis, treatment, and research. These terms not only facilitate communication among medical practitioners but also enhance the clarity of medical documentation and coding practices. If you need further information on this condition or related metabolic disorders, feel free to ask!

Glutaric aciduria type II, classified under ICD-10 code E71.313, is a rare metabolic disorder characterized by the body's inability to properly break down certain fats and proteins. This condition is part of a group of disorders known as organic acidemias, which result from the accumulation of organic acids in the body due to enzyme deficiencies.

Clinical Description

Pathophysiology

Glutaric aciduria type II is primarily caused by a deficiency in the enzyme electron transfer flavoprotein (ETF) or its associated proteins, which are crucial for the metabolism of fatty acids and certain amino acids. This deficiency leads to the accumulation of glutaric acid and other organic acids in the blood and urine, resulting in metabolic disturbances.

Symptoms

The clinical presentation of glutaric aciduria type II can vary widely among individuals, but common symptoms include:

• Hypoglycemia: Low blood sugar levels, which can lead to lethargy and irritability.
• Metabolic crises: Episodes of metabolic decompensation, often triggered by fasting, illness, or stress, leading to severe symptoms such as vomiting, dehydration, and lethargy.
• Neurological symptoms: These may include developmental delays, seizures, and hypotonia (decreased muscle tone).
• Failure to thrive: Infants may exhibit poor growth and weight gain due to metabolic issues.

Diagnosis

Diagnosis of glutaric aciduria type II typically involves:

• Biochemical tests: Measurement of organic acids in urine, which may show elevated levels of glutaric acid and other metabolites.
• Genetic testing: Identification of mutations in the genes associated with ETF deficiency can confirm the diagnosis.
• Newborn screening: In some regions, newborn screening programs may detect elevated levels of acylcarnitines, which can indicate fatty acid oxidation disorders.

Management

Management of glutaric aciduria type II focuses on preventing metabolic crises and managing symptoms. Key strategies include:

• Dietary management: A low-fat diet with restricted intake of certain amino acids may be recommended to minimize the production of toxic metabolites.
• Supplementation: Some patients may benefit from carnitine supplementation to help with the metabolism of fatty acids.
• Emergency care: During metabolic crises, intravenous fluids and glucose may be necessary to stabilize the patient.

Conclusion

Glutaric aciduria type II is a serious metabolic disorder that requires careful management to prevent complications. Early diagnosis and intervention are crucial for improving outcomes and quality of life for affected individuals. Ongoing research into the underlying mechanisms and potential therapies continues to be important in the field of metabolic disorders.

Glutaric aciduria type II (GA II), classified under ICD-10 code E71.313, is a rare metabolic disorder characterized by a deficiency in the enzyme responsible for the breakdown of certain fatty acids and amino acids. This condition can lead to a variety of clinical presentations, signs, symptoms, and patient characteristics that are important for diagnosis and management.

Clinical Presentation

Overview

Glutaric aciduria type II is primarily caused by a deficiency in multiple acyl-CoA dehydrogenases, which are enzymes involved in the mitochondrial fatty acid oxidation pathway. This deficiency results in the accumulation of glutaric acid and other organic acids in the body, leading to metabolic disturbances.

Age of Onset

The clinical presentation of GA II can vary significantly based on the age of onset. Symptoms may appear in infancy or early childhood, but some cases may not be diagnosed until later in life.

Signs and Symptoms

Common Symptoms

1. Metabolic Crises: Patients may experience acute metabolic crises triggered by fasting, illness, or stress, leading to symptoms such as vomiting, lethargy, and hypoglycemia.
2. Neurological Symptoms: Neurological manifestations can include:
   - Developmental delays
   - Hypotonia (decreased muscle tone)
   - Seizures
   - Ataxia (lack of voluntary coordination of muscle movements)
   - Movement disorders, including dystonia
3. Failure to Thrive: Infants may exhibit poor growth and feeding difficulties due to metabolic instability.
4. Cardiomyopathy: Some patients may develop heart problems, including hypertrophic cardiomyopathy, which can lead to heart failure if not managed appropriately.

Physical Examination Findings

• Hypotonia: Reduced muscle tone is often noted during physical examinations.
• Neurological Deficits: Signs of neurological impairment may be evident, including abnormal reflexes or motor skills.
• Signs of Dehydration: Due to recurrent vomiting and metabolic crises, patients may show signs of dehydration.

Patient Characteristics

Demographics

• Genetic Background: GA II is inherited in an autosomal recessive pattern, meaning that both parents must carry the gene mutation for a child to be affected. It is more prevalent in certain populations, including those with a higher incidence of consanguinity.
• Family History: A family history of metabolic disorders may be present, as GA II is part of a group of inherited metabolic conditions.

Laboratory Findings

• Elevated Organic Acids: Urine tests may reveal elevated levels of glutaric acid and other organic acids, which are indicative of the disorder.
• Biochemical Testing: Blood tests may show abnormalities in acylcarnitine profiles, which can help confirm the diagnosis.

Conclusion

Glutaric aciduria type II (ICD-10 code E71.313) presents with a range of clinical symptoms primarily related to metabolic crises and neurological impairment. Early recognition and management are crucial to prevent severe complications, including developmental delays and metabolic decompensation. Genetic counseling may be beneficial for affected families, given the hereditary nature of the disorder. Regular monitoring and supportive care can significantly improve the quality of life for patients with this condition.