Research details

Karpagam Rare Diseases Research Centre (KRDRC) is dedicated to advancing support, research, and treatment accessibility for rare disease communities in India and globally.



Group 2:

Diseases requiring long term / lifelong treatment having relatively lower cost treatment and benefit has been documented in literature and annual or more frequent surveillance is required:

a) Disorders managed with special dietary formulae or Food for special medical purposes (FSMP):

  • • Phenylketonuria (PKU)
  • • Non-PKU hyperphenylalaninemia conditions
  • • Maple Syrup Urine Disease (MSUD)
  • • Tyrosinemia type 1 and 2
  • • Homocystinuria

b) Disorders that are amenable to other forms of therapy (hormone/specific drugs):

Liver Transplantation - Metabolic Liver Diseases

  • • Tyrosinemia
  • • Glycogen storage disorders (GSD) I, III and IV due to poor metabolic control, multiple liver adenomas, or high risk for Hepatocellular carcinoma or evidence of substantial cirrhosis or liver dysfunction or progressive liver failure
  • • MSUD (Maple Syrup Urine Disease)
  • • Urea cycle disorders
  • • Organic acidemias

Renal Transplantation

  • • Fabry disease
  • • Autosomal recessive Polycystic Kidney Disease (ARPKD)
  • • Autosomal dominant Polycystic Kidney Disease (ADPKD)

Combined Transplantation

Patients requiring combined liver and kidney transplants can also be considered if the same ceiling of funds is maintained. (Rarely Methyl Malonicaciduria may require combined liver & Kidney transplant)