Glutaric Aciduria Type II (ICD-10-CM Code: E71.313)

Name of the Condition

• Glutaric aciduria type II.

Summary

Glutaric aciduria type II is an inherited metabolic disorder that disrupts the body's ability to break down certain fats and proteins for energy. This impairment leads to the accumulation of toxic byproducts, particularly during fasting or illness, and may cause symptoms affecting the liver, muscles, or nervous system. The condition disrupts normal metabolic pathways, potentially resulting in energy deficits or organ damage if untreated.

Causes

These disorders are caused by genetic mutations that affect enzymes or transport proteins involved in fatty-acid oxidation and amino acid metabolism. Most are inherited in an autosomal recessive pattern, meaning both parents must carry a mutated gene for a child to be affected. The specific genetic defect determines the severity and clinical presentation of the condition.

Risk Factors

• Family history of metabolic disorders.
• Consanguineous relationships (parents who are closely related).
• Certain ethnic populations with higher carrier rates for specific mutations.

Symptoms

• Muscle weakness or pain, especially during exercise or fasting.
• Hypoglycemia (low blood sugar) or lethargy.
• Enlarged liver (hepatomegaly) or liver dysfunction.
• Neurological symptoms, such as seizures or developmental delays.
• Metabolic acidosis (excess acid in the blood).
• Respiratory distress or failure in severe cases.

Diagnosis

Diagnosis typically involves biochemical testing to detect elevated levels of glutaric acid and other organic acids in urine or blood. Genetic testing may confirm the specific mutation. Additional tests, such as enzyme activity assays or imaging studies, may assess organ involvement.

Treatment Options

Treatment focuses on managing symptoms and preventing metabolic crises. This may include dietary modifications (e.g., avoiding fasting, using specialized formulas), supplementation with carnitine or riboflavin, and addressing organ-specific complications. In severe cases, supportive care for respiratory or neurological issues may be necessary.

Prognosis and Follow-Up

Prognosis varies depending on the severity of the condition and the timeliness of treatment. Early intervention can improve outcomes, but some individuals may experience long-term neurological or organ damage. Regular follow-up with metabolic specialists is essential to monitor growth, development, and metabolic stability.

Complications

• Severe metabolic acidosis.
• Liver failure or cirrhosis.
• Neurological damage, including developmental delays or seizures.
• Respiratory failure.
• Cardiomyopathy (heart muscle disease).

Lifestyle & Prevention

• Avoid prolonged fasting or illness, which can trigger metabolic crises.
• Follow a prescribed diet and supplementation plan.
• Maintain regular medical appointments for monitoring.
• Educate caregivers and family members about emergency signs and management.

When to Seek Professional Help

Seek immediate medical attention if symptoms such as severe lethargy, difficulty breathing, or seizures occur, as these may indicate a metabolic crisis. Regular follow-up with a metabolic specialist is recommended for ongoing management.

Tips for Medical Coders

When coding for glutaric aciduria type II (E71.313), ensure documentation supports the diagnosis, including clinical findings, biochemical test results, and genetic confirmation. Note any associated complications or treatments, as these may require additional codes. Verify that the code aligns with the specific subtype and clinical presentation documented in the record.