Glutaric Aciduria Type 1 (GA1)

What is Glutaric Aciduria Type 1?

Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder that affects the body's ability to break down certain amino acids (lysine, hydroxylysine, and tryptophan). This condition is caused by mutations in the GCDH gene.

Key Characteristics

• Inherited in an autosomal recessive pattern
• Typically presents in infancy or early childhood
• Affects approximately 1 in 100,000 newborns

Common Symptoms

Early Signs

• Poor feeding
• Irritability
• Weak muscle tone (hypotonia)
• Macrocephaly (enlarged head)

Later Manifestations

• Movement disorders
• Dystonia
• Spasticity
• Development delays

Diagnosis

• Newborn screening in many countries
• Blood and urine tests for organic acids
• Genetic testing to confirm GCDH mutations
• MRI brain imaging

Treatment Approaches

Dietary Management

• Restricted protein diet
• Special medical formula
• Carnitine supplementation

Emergency Protocol

• Immediate medical attention during illness
• Prevention of metabolic crises
• IV glucose administration when needed

Supportive Care

• Physical therapy
• Occupational therapy
• Regular monitoring by metabolic specialists

Long-term Management

• Consistent dietary compliance
• Regular medical check-ups
• Monitoring growth and development
• Prevention of metabolic decompensation

Prognosis

Early diagnosis and strict dietary management can significantly improve outcomes. Many patients can lead fulfilling lives with appropriate medical care and support.