Context: In 2014, the Delhi High Court, in a ruling, allowed for free enzyme replacement therapy for a rare condition (Gaucher’s disease), to a seven-year-old child.
More information from the news:
- On October 4, 2024, the Delhi High Court once again extended its support to those suffering from rare diseases, as it had done in the 2014 verdict.
- The court also issued several directives, including a call for the Central Government to establish a fund of Rs 974 crores dedicated to the treatment and support of over 100 individuals affected by rare diseases across the nation.
- The court cited the 2014 case, Mohd Ahmed (Minor) v. Union of India, to reaffirm that the ‘right to health is part of the right to life (Article 21).’
About Gaucher’s disease
- Gaucher’s Disease (GD) is a rare genetic disorder caused by the deficiency of an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as spleen and liver.
There are 3 types of Gaucher’s disease:
- Type 1: This is the most common type of Gaucher disease. It affects about 90% of people with the disease. In type 1, the patient does not have enough platelets in blood. This can make him/her bruise easily and feel very tired (fatigued). The symptoms can start at any age and the patient has an enlarged liver or spleen. It may also include kidney, lung, or skeletal problems.
- Type 2: This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases children don’t live beyond 2 years old.
- Type 3: Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.
Causes of Gaucher’s disease:
- Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene.
- It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher.
- Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease.
Note:
- The GBA gene provides instructions for making an enzyme called beta glucocerebrosidase.
- This enzyme is active in lysosomes, which are structures inside cells that act as recycling centres.
- Lysosomes use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components.
- Based on these functions, enzymes in the lysosome are sometimes called housekeeping enzymes.
- Beta-glucocerebrosidase is a housekeeping enzyme that helps break down a large molecule called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).
- More than 380 mutations in the GBA gene have been identified in people with Gaucher disease.
- The mutations occur in both copies of the gene in each cell.
- Most of the GBA gene mutations responsible for Gaucher disease change single protein building blocks (amino acids) in beta glucocerebrosidase, altering the structure of the enzyme and preventing it from working normally.
- Other mutations delete or insert genetic material in the GBA gene or lead to the production of an abnormally short, nonfunctional version of the enzyme.
- Mutations in the GBA gene greatly reduce or eliminate the activity of beta glucocerebrosidase in cells.
- As a result, glucocerebroside is not broken down properly.
- This molecule and related substances can build up in white blood cells called macrophages in the spleen, liver, bone marrow, and other organs.
- The abnormal accumulation and storage of these substances damages tissues and organs, causing the characteristic features of Gaucher disease.
Symptoms of Gaucher’s disease can include:
- Enlarged spleen; Enlarged liver; Eye movement disorders; Yellow spots in the eyes; Not having enough healthy red blood cells (anemia); Extreme tiredness (fatigue); Bruising; Lung problems; Seizures.
Treatment
- There is no cure for Gaucher disease. But treatment can help control the symptoms.
- The treatment will depend on the type of Gaucher disease.
- Treatment may include:
- Enzyme replacement therapy, which is effective for types 1 and 3
- Medicines
- Regular physical exams and bone density screening to check the disease
- Bone marrow transplant
- Surgery to remove all or part of the spleen
- Joint replacement surgery
- Blood transfusions
Note:
- Enzyme replacement therapy is typically used to replace a missing or deficient enzyme in a person with an inherited enzyme deficiency syndrome.
- The missing enzyme is replaced by infusions of an enzyme that is purified from human or animal tissue or blood or produced by novel recombinant techniques.
- Typically, the enzyme is modified to allow for a longer half-life, more potent activity, resistance to degradation or targeting a specific organ, tissue or cell type.
- The first successful enzyme replacement therapies were for alpha-1-antitrypsin (A1AT) deficiency using plasma derived purified human A1AT.
- A second form of successful enzyme replacement therapy was established for Gaucher disease.