Rare Disease Show Episode 17-- In today's show we will cover Homocystinuria.
Homocystinuria (HCU) is a rare genetic disorder that affects your body’s ability to process the amino acid homocysteine. With this disorder, a harmful buildup of homocysteine in your blood and pee (urine) can occur. This buildup can cause severe complications involving your eyes, skeletal system, central nervous system and vascular system.
Researchers classify homocystinuria into different types based on their underlying genetic causes.
The two main types of homocystinuria include Cystathionine beta-synthase (CBS) deficiency (classical homocystinuria) and Cobalamin (cbl) cofactor metabolism defect.
In this episode, Dr Anup Rawool. , Associate Director, Medical Genetics, Head, Scientific and Medical Affairs, MedGenome shares his insights by addressing questions asked by the Medical Dialogues team-
1. What Homocystinuria is, why is it a rare diease and how it is inherited?
2. What are the primary genetic mutations involved in Homocystinuria, and how do they affect the body’s metabolism?
3. What role does the enzyme cystathionine beta-synthase (CBS) play in this disorder, and how do CBS gene mutations lead to Homocystinuria?
4. What are the common clinical signs and symptoms of Homocystinuria, and how do they vary among patients?
5. How does Homocystinuria affect different body systems, such as the cardiovascular, skeletal, and nervous systems?
6. What are the key diagnostic tests used to confirm a diagnosis of Homocystinuria?
7. Are there any genetic testing panels that can be recommended for families with a history of Homocystinuria?
8. What are the current treatment options for Homocystinuria, and how effective are they in managing the condition?
9. How does the use of vitamin B6 (pyridoxine) work in treating some forms of Homocystinuria?
10. What is the long-term prognosis for individuals diagnosed with Homocystinuria, particularly if diagnosed early?
11. What is the role of genetic counseling for families affected by Homocystinuria, especially in terms of family planning?
12. Can you discuss the importance of prenatal testing or pre-implantation genetic diagnosis for at-risk families?
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