ICD-10: E71.110

Isovaleric acidemia (IVA) is a rare inherited metabolic disorder characterized by the body's inability to properly break down the amino acid leucine. This condition is classified under the ICD-10-CM code E71.110, which specifically denotes isovaleric acidemia as a type of organic acidemia.

Clinical Description

Pathophysiology

Isovaleric acidemia results from a deficiency in the enzyme isovaleryl-CoA dehydrogenase, which is crucial for the metabolism of leucine. When this enzyme is deficient or absent, isovaleric acid accumulates in the body, leading to toxic effects. The accumulation can cause a range of symptoms, particularly affecting the nervous system and metabolic processes.

Symptoms

The clinical presentation of isovaleric acidemia can vary significantly among individuals, but common symptoms include:

• Acute metabolic crisis: This may occur in newborns and can present with symptoms such as vomiting, lethargy, irritability, and poor feeding.
• Odor: A distinctive "sweaty feet" odor due to the accumulation of isovaleric acid is often noted.
• Neurological symptoms: These can include seizures, developmental delays, and hypotonia (decreased muscle tone).
• Failure to thrive: Infants may experience growth delays due to feeding difficulties and metabolic instability.

Diagnosis

Diagnosis of isovaleric acidemia typically involves:

• Newborn screening: Many regions include tests for organic acidemias in routine newborn screening panels, which can detect elevated levels of isovalerylglycine or isovaleric acid.
• Biochemical analysis: Urine tests may reveal elevated levels of isovaleric acid and other metabolites.
• Genetic testing: Identification of mutations in the IVD gene, which encodes the isovaleryl-CoA dehydrogenase enzyme, can confirm the diagnosis.

Management and Treatment

Dietary Management

The primary treatment for isovaleric acidemia involves dietary management to limit leucine intake. This may include:

• Medical foods: Specially formulated low-protein diets and amino acid supplements that are low in leucine can help manage the condition.
• Frequent monitoring: Regular follow-up with metabolic specialists is essential to adjust dietary needs based on metabolic status and growth.

Emergency Care

In cases of metabolic crisis, immediate medical intervention is necessary. This may involve:

• Intravenous fluids: To correct dehydration and electrolyte imbalances.
• Ammonia scavengers: Medications that help reduce ammonia levels in the blood may be used in severe cases.

Prognosis

With early diagnosis and appropriate management, individuals with isovaleric acidemia can lead relatively normal lives. However, ongoing monitoring and dietary adherence are crucial to prevent metabolic crises and associated complications.

In summary, isovaleric acidemia (ICD-10 code E71.110) is a serious metabolic disorder that requires careful management to mitigate its effects on health and development. Early detection through newborn screening and a tailored dietary approach are key components of effective treatment.

Isovaleric acidemia (IVA) is a rare metabolic disorder characterized by the body's inability to properly break down the amino acid leucine. This condition is classified under ICD-10 code E71.110. Understanding the clinical presentation, signs, symptoms, and patient characteristics associated with isovaleric acidemia is crucial for early diagnosis and management.

Clinical Presentation

Isovaleric acidemia typically presents in infancy or early childhood, although milder forms may not be diagnosed until later in life. The clinical manifestations can vary significantly among individuals, but they often include acute metabolic crises triggered by factors such as illness, fasting, or dietary changes.

Signs and Symptoms

1. Acute Metabolic Crisis:
   - Symptoms often arise during metabolic stress, leading to severe illness. Common signs include:

   • Vomiting
   • Lethargy
   • Poor feeding
   • Hypotonia (decreased muscle tone)
   • Irritability

2. Odor:
   - A distinctive feature of isovaleric acidemia is the presence of a "sweaty feet" odor, which is due to the accumulation of isovaleric acid in the body. This odor can be a key diagnostic clue.

3. Neurological Symptoms:
   - Some patients may experience neurological issues, including:

   • Seizures
   • Developmental delays
   • Cognitive impairment

4. Metabolic Symptoms:
   - Laboratory findings during a metabolic crisis may reveal:

   • Elevated levels of isovaleric acid in urine
   • Metabolic acidosis
   • Hypoglycemia (low blood sugar)

5. Chronic Symptoms:
   - In less severe cases, individuals may present with chronic symptoms such as:

   • Growth retardation
   • Recurrent episodes of metabolic decompensation

Patient Characteristics

Isovaleric acidemia is inherited in an autosomal recessive manner, meaning that both parents must carry the defective gene for a child to be affected. The following characteristics are often observed in patients:

• Age of Onset: Symptoms typically manifest in the first few days to weeks of life, although some cases may not be diagnosed until later due to milder symptoms.
• Family History: A family history of metabolic disorders may be present, as IVA is a genetic condition.
• Ethnic Background: While isovaleric acidemia can affect individuals of any ethnic background, certain populations may have a higher prevalence due to genetic factors.

Conclusion

Isovaleric acidemia (ICD-10 code E71.110) is a serious metabolic disorder that requires prompt recognition and management to prevent severe complications. The clinical presentation is characterized by acute metabolic crises, distinctive odors, and a range of neurological and metabolic symptoms. Early diagnosis through newborn screening and genetic testing is essential for effective management, which may include dietary modifications and supplementation to manage leucine levels. Understanding the signs, symptoms, and patient characteristics associated with this condition is vital for healthcare providers to ensure timely intervention and support for affected individuals and their families.

Isovaleric acidemia, classified under the ICD-10 code E71.110, is a metabolic disorder characterized by the accumulation of isovaleric acid in the body due to a deficiency in the enzyme isovaleryl-CoA dehydrogenase. This condition is part of a broader category of disorders related to branched-chain amino acids. Below are alternative names and related terms associated with E71.110:

Alternative Names

1. Isovaleric Acidemia: This is the most commonly used term and is often used interchangeably with isovaleric acidemia.
2. Isovaleryl-CoA Dehydrogenase Deficiency: This term refers specifically to the enzyme deficiency that causes the disorder.
3. Isovaleric Aciduria: This term highlights the presence of isovaleric acid in the urine, which is a key diagnostic marker for the condition.

Related Terms

1. Branched-Chain Amino Acid Disorders: Isovaleric acidemia falls under this category, which includes other metabolic disorders related to the metabolism of branched-chain amino acids (leucine, isoleucine, and valine).
2. Organic Acidemias: This broader category includes various metabolic disorders characterized by the accumulation of organic acids in the body, including isovaleric acidemia.
3. Metabolic Disorders: A general term that encompasses a wide range of conditions, including isovaleric acidemia, that affect the body's metabolism.
4. Newborn Screening: Isovaleric acidemia is often detected through newborn screening programs, which test for various metabolic disorders shortly after birth.

Clinical Context

Isovaleric acidemia is significant in clinical practice due to its potential for serious health implications if not diagnosed and managed early. Symptoms can include metabolic crises, neurological issues, and distinctive odors in sweat and urine, often described as "sweaty feet" due to the accumulation of isovaleric acid.

Understanding these alternative names and related terms is crucial for healthcare professionals involved in diagnosis, treatment, and management of patients with this condition, ensuring accurate communication and documentation in medical records.

Isovaleric acidemia (IVA) is a rare inherited metabolic disorder characterized by the body's inability to properly break down the amino acid leucine. The diagnosis of IVA, particularly for the ICD-10 code E71.110, involves several criteria and diagnostic methods. Below is a detailed overview of the diagnostic criteria and processes used for identifying isovaleric acidemia.

Clinical Presentation

Symptoms

Patients with isovaleric acidemia may present with a variety of symptoms, which can include:
- Acute metabolic crises: These may occur during periods of illness, fasting, or stress, leading to symptoms such as vomiting, lethargy, and irritability.
- Odor: A distinctive "sweaty feet" odor due to the accumulation of isovaleric acid can be a key indicator.
- Neurological symptoms: These may include seizures, developmental delays, or hypotonia in infants.

Laboratory Testing

Biochemical Analysis

1. Plasma Amino Acids: Elevated levels of isovalerylglycine and decreased levels of leucine are indicative of IVA. The presence of isovalerylglycine in urine is also a significant marker.
2. Urine Organic Acids: A urine test may reveal increased levels of isovaleric acid and isovalerylglycine, which are critical for diagnosis.

Newborn Screening

• Mass Spectrometry: Many regions include isovaleric acidemia in newborn screening panels, where tandem mass spectrometry is used to detect elevated levels of acylcarnitines associated with branched-chain amino acid metabolism disorders.

Genetic Testing

• Molecular Genetic Testing: Identification of mutations in the IVD gene, which encodes the enzyme isovaleryl-CoA dehydrogenase, can confirm the diagnosis. Genetic testing is particularly useful for asymptomatic newborns identified through screening.

Diagnostic Criteria Summary

To diagnose isovaleric acidemia, clinicians typically consider:
- Clinical symptoms consistent with metabolic disorders.
- Laboratory findings showing elevated isovalerylglycine and isovaleric acid.
- Confirmation through genetic testing for mutations in the IVD gene.

Conclusion

The diagnosis of isovaleric acidemia (ICD-10 code E71.110) relies on a combination of clinical evaluation, biochemical testing, and genetic analysis. Early diagnosis is crucial for managing the condition effectively, particularly in newborns identified through screening programs. If you suspect isovaleric acidemia, it is essential to consult a healthcare professional for appropriate testing and management.

Isovaleric acidemia (IVA), classified under ICD-10 code E71.110, is a rare metabolic disorder characterized by the body's inability to properly break down the amino acid leucine. This condition leads to the accumulation of isovaleric acid in the blood, which can result in various health complications. The management of isovaleric acidemia typically involves a combination of dietary modifications, supplementation, and monitoring. Below, we explore the standard treatment approaches for this condition.

Dietary Management

Protein Restriction

One of the primary treatment strategies for isovaleric acidemia is the restriction of dietary protein, particularly those high in leucine. Patients are often placed on a low-protein diet to minimize the intake of leucine, which is found in high amounts in protein-rich foods such as meat, dairy, and certain legumes. This dietary adjustment helps to reduce the production of isovaleric acid, thereby preventing its accumulation in the body[1].

Special Formulas

In addition to protein restriction, patients may be prescribed specialized medical formulas that are low in leucine but provide adequate nutrition. These formulas are designed to meet the nutritional needs of individuals with metabolic disorders while limiting the intake of harmful substances[2].

Supplementation

Amino Acid Supplementation

To ensure that patients receive essential nutrients while adhering to a low-protein diet, supplementation with specific amino acids may be necessary. For instance, patients might be given supplements of essential amino acids that are not restricted, helping to maintain overall health and prevent deficiencies[3].

Carnitine Supplementation

Carnitine, a nutrient that plays a crucial role in fatty acid metabolism, may also be supplemented. It can help in the excretion of excess organic acids, including isovaleric acid, thus aiding in the management of the condition[4].

Monitoring and Management of Acute Episodes

Regular Monitoring

Patients with isovaleric acidemia require regular monitoring of their metabolic status, including blood levels of isovaleric acid and other metabolites. This monitoring is essential to adjust dietary and supplementation strategies as needed and to prevent metabolic crises[5].

Management of Metabolic Crises

In cases of metabolic crises, which can occur due to illness, fasting, or excessive protein intake, immediate medical intervention is necessary. Treatment may include intravenous fluids, glucose administration, and, in some cases, hemodialysis to remove excess isovaleric acid from the bloodstream[6].

Genetic Counseling

Given that isovaleric acidemia is an inherited disorder, genetic counseling is recommended for affected individuals and their families. This counseling can provide information about the condition, its inheritance patterns, and the implications for family planning[7].

Conclusion

The management of isovaleric acidemia (ICD-10 code E71.110) is multifaceted, focusing primarily on dietary restrictions, supplementation, and careful monitoring to prevent complications. With appropriate treatment and lifestyle adjustments, individuals with this condition can lead healthier lives. Ongoing research and advancements in metabolic disorder management continue to improve outcomes for patients with isovaleric acidemia and similar conditions. Regular follow-ups with healthcare providers are crucial to ensure optimal management and to address any emerging health concerns.