Soon at SGPGIMS: Treatment for rare Wilson Disease, Tyrosinemia

Lucknow: Treatment for two rare diseases, Wilson Disease and tyrosinemia, will be available at the Sanjay Gandhi Post Graduate Institute of Medical Sciences very soon.

The information was shared on Wednesday at an event organised in the lead-up to the worldwide Rare Diseases Day observed in Feb.

Sharing details, the head of the medical genetics department, Prof Shubha Phadke, said: "With the funds received by SGPGIMS for the treatment of patients with rare diseases, those with Gaucher disease, spinal muscular disease, growth hormone deficiency, immunodeficiency disorders, among others, started getting free treatment. Patients with Wilson disease and tyrosinemia will soon start receiving free medicines as the purchase process is ongoing. The upper limit of the funding per patient is Rs 50 lakh."

Wilson disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper accumulation in the body, particularly involving the brain, liver, and cornea. It affects one in 30,000 individuals.

Tyrosinemia is a metabolic disorder in which the body doesn't produce a crucial enzyme it needs [called fumarylacetoacetate hydrolase (FAH)] to metabolise a protein called tyrosine, which is needed to break down substances and produce energy. The disease is seen in one out of one lakh persons.

Lucknow: Treatment for two rare diseases, Wilson Disease and tyrosinemia, will be available at the Sanjay Gandhi Post Graduate Institute of Medical Sciences very soon.

The information was shared on Wednesday at an event organised in the lead-up to the worldwide Rare Diseases Day observed in Feb.

Sharing details, the head of the medical genetics department, Prof Shubha Phadke, said: "With the funds received by SGPGIMS for the treatment of patients with rare diseases, those with Gaucher disease, spinal muscular disease, growth hormone deficiency, immunodeficiency disorders, among others, started getting free treatment. Patients with Wilson disease and tyrosinemia will soon start receiving free medicines as the purchase process is ongoing. The upper limit of the funding per patient is Rs 50 lakh."

Wilson disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper accumulation in the body, particularly involving the brain, liver, and cornea. It affects one in 30,000 individuals.

Tyrosinemia is a metabolic disorder in which the body doesn't produce a crucial enzyme it needs [called fumarylacetoacetate hydrolase (FAH)] to metabolise a protein called tyrosine, which is needed to break down substances and produce energy. The disease is seen in one out of one lakh persons.