Other Disorders of Branched-Chain Amino-Acid Metabolism (ICD E71.19)

Name of the Condition

• Commonly referred to as "branched-chain amino acid metabolism disorders."

Summary

Other disorders of branched-chain amino-acid metabolism involve problems in the body's ability to process branched-chain amino acids (BCAAs) like leucine, isoleucine, and valine, which are important for protein synthesis and energy production.

Causes

• Genetic mutations affecting enzymes involved in the breakdown of BCAAs.
• These are typically inherited in an autosomal recessive pattern.

Risk Factors

• Family history of metabolic disorders.
• Higher prevalence in certain ethnic or geographical populations.

Symptoms

• Developmental delay.
• Low energy levels or lethargy.
• Poor feeding in infants.
• Vomiting.
• Seizures or neurological issues in severe cases.

Diagnosis

• Blood tests to measure amino acid levels.
• Genetic testing for enzyme mutations.
• Newborn screening in some countries.

Treatment Options

• Dietary management to limit intake of certain amino acids.
• Vitamin and mineral supplementation.
• Regular monitoring and treatment of symptoms.
• In some instances, liver transplantation may be considered.

Prognosis and Follow-Up

• With early and effective treatment, individuals may lead normal lives, but continuous management is essential.
• Regular follow-up appointments for monitoring amino acid levels and overall health are crucial.

Complications

• Untreated, severe cases may lead to neurological damage or life-threatening metabolic crises.
• Risk of long-term developmental delays.

Lifestyle & Prevention

• Early dietary intervention can prevent complications.
• Genetic counseling for families with a history of the disorder.

When to Seek Professional Help

• If symptoms like severe lethargy, poor feeding, or seizures occur, especially in newborns or young children.

Additional Resources

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

Tips for Medical Coders

• Ensure "E71.19" is used specifically for disorders not classified elsewhere in the branched-chain amino acid metabolism category.
• Double-check for any related conditions or comorbidities that may also require coding.