Mevalonate Kinase Deficiency as A Cause of Periodic Fever- A Report of Two Cases

• Κύριοι συγγραφείς: Hema Sameera Pinnam (Συγγραφέας), Mahabaleshwar Mamadapur (Συγγραφέας), Sabarinath Mahadevan (Συγγραφέας), Varuni Pragya (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Dr. Annil Mahajan, 2024-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Mevalonate kinase deficiency (MKD) is an exceedingly rare autosomal recessive inborn metabolism error characterized by mutations in the MVK gene, leading to impaired synthesis of cholesterol and isoprenoids. Two case reports of MKD in South India, shedding light on the disease's clinical hetero...