Rare Disease Show: Episode 17 Understanding Homocystinuria with Dr Anup Rawool
Written By : Dr. Nandita Mohan
By : Dr Anup Rawool
Published On 2024-10-08 03:15 GMT | Update On 2024-10-08 03:15 GMT
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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-
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