Isovaleric Acidaemia (IVA)

What is Isovaleric Acidaemia?

Isovaleric acidaemia (IVA) is a rare inherited metabolic disorder that affects the body's ability to break down the amino acid leucine, which is found in protein-containing foods.

Causes

• Genetic mutation in the IVD gene
• Inherited in an autosomal recessive pattern
• Both parents must carry the defective gene

Key Symptoms

Early Presentation

• Poor feeding
• Vomiting
• Lethargy
• Distinctive 'sweaty feet' odor
• Seizures
• Coma (in severe cases)

Chronic/Later Presentation

• Developmental delay
• Failure to thrive
• Recurrent episodes of metabolic crisis
• Protein intolerance

Diagnosis

• Newborn screening (in many countries)
• Blood tests showing elevated isovaleric acid
• Genetic testing
• Urine organic acid analysis

Treatment Options

Dietary Management

• Restricted protein intake
• Special medical formula
• Supplementation with L-carnitine and glycine

Acute Management

• IV fluids during metabolic crisis
• Hospital admission when unwell
• Emergency protocol implementation

Living with IVA

Regular Monitoring

• Blood tests
• Growth and development checks
• Dietary reviews

Preventive Measures

• Avoiding fasting
• Following dietary recommendations
• Early intervention during illness

Support and Resources

• Metabolic specialist team
• Dietitian support
• Genetic counseling
• Patient support groups

Prognosis

With early diagnosis and appropriate management, many individuals with IVA can lead healthy lives. Regular medical supervision and dietary compliance are essential for optimal outcomes.