Where Rare Diseases Meet Rare Expertise

Diseases and Conditions

Rare Diseases We Treat

1. Metabolic Disorders in Children

These disorders occur when a missing or defective enzyme disrupts the body’s ability to process nutrients.

Common conditions we treat include:

• Galactosemia
• Tyrosinemia
• Methylmalonic Acidemia

These illnesses may cause toxic build-up and damage to the liver, kidneys, or brain.

Treatment at Rela includes:

• Metabolic screening
• Enzyme replacement therapy
• Diet and drug-based management
• Transplant where needed

2. Alagille Syndrome

A genetic disorder affecting the bile ducts, heart, and other organs.

Symptoms include:

• Persistent jaundice
• Heart murmur
• Distinct facial features
• Poor growth

Our care team provides:

• Genetic testing
• Monitoring of liver, cardiac, and renal function
• Surgical or transplant support if needed

3. Caroli’s Disease

This congenital liver disease causes enlarged bile ducts and can lead to recurrent infections.

Symptoms include:

• Abdominal pain
• Cholangitis
• Liver cysts

Treatment at Rela includes:

• Infection management
• Imaging-guided diagnosis
• Surgery or transplant in severe cases

4. PFIC (Progressive Familial Intrahepatic Cholestasis)

A group of inherited liver disorders that prevent bile from flowing properly, leading to progressive liver damage.

Symptoms include:

• Severe itching
• Chronic jaundice
• Growth delay

Treatment at Rela includes:

• Genetic confirmation
• Medical management
• Timely liver transplantation when necessary

Real Stories. Real Strength.

Discover inspiring journeys of individuals who found expert care and hope for rare diseases at Rela.

Why Choose Rela?

• One of India’s few centres with proven success in combined liver-kidney transplants
• Dedicated paediatric hepatology & transplant unit
• Advanced neonatal, metabolic, and genetic diagnostic capabilities
• Multidisciplinary care with long-term follow-up support