Where Rare Diseases Meet Rare Expertise

Diseases and Conditions

Rare Diseases We Treat

1. Jaundice in Newborn

Jaundice is common in newborns, but if it persists beyond 2 weeks in full-term or 3 weeks in preterm babies, it could indicate an underlying issue.
Possible causes include:

• Blood group incompatibilities (Rh/ABO mismatch)
• Anatomical issues such as biliary atresia
• Metabolic conditions like galactosemia or tyrosinemia
• Genetic liver diseases like PFIC or Alagille syndrome

At Rela Hospital, our neonatal and hepatology teams collaborate to diagnose, investigate, and treat prolonged jaundice using advanced lab and imaging tools

2. Biliary Atresia

A rare but serious condition where bile ducts are missing or blocked, leading to liver damage. Early surgical intervention is critical.

Warning signs include:

• Persistent jaundice
• Clay-coloured stools
• Dark yellow urine

Our treatment approach includes:

• Kasai procedure (portoenterostomy)
• Liver transplant, if required in advanced cases

Rela’s paediatric surgery and transplant team ensures early diagnosis and excellent outcomes.

3. 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.

We offer:

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

4. Acute Liver Failure

This is a life-threatening condition that can progress rapidly, often requiring urgent intervention.

Causes include:

• Viral infections
• Genetic/metabolic issues
• Drug toxicity

At Rela, we offer:

• Round-the-clock PICU care
• Liver support therapies
• Emergency liver transplantation if necessary

5. 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

6. Caroli’s Disease

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

Key features:

• Abdominal pain
• Cholangitis
• Liver cysts

Treatment at Rela includes:

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

7. PFIC (Progressive Familial Intrahepatic Cholestasis)

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

Symptoms:

• Severe itching
• Chronic jaundice
• Growth delay

We offer:

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

8. NAFLD in Children

Non-Alcoholic Fatty Liver Disease is increasingly seen in children due to modern lifestyles and obesity.

Risk factors:

• High-calorie diets
• Sedentary lifestyle
• Insulin resistance

Our program offers:

• Diet and activity counseling
• Liver enzyme monitoring
• Long-term care for metabolic health

Real Stories. Real Strength.

Hear from families whose children battled rare diseases and received life-saving care 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