174 Disorders Of Methionine Metabolism

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𝐒𝐮𝐛𝐬𝐜𝐫𝐢𝐛𝐞 𝗙𝐨𝐫 𝗠𝐨𝐫𝐞 𝗜𝐧𝐟𝐨𝐫𝐦𝐚𝐭𝐢𝐨𝐧 𝐨𝐧 𝗛𝐞𝐚𝐥𝐭𝐡 👩‍⚕‍ 𝐚𝐧𝐝 𝗠𝐞𝐝𝐢𝐜𝐢𝐧𝐞💉🩺💊 • 𝐘𝐨𝐮𝐭𝐮𝐛𝐞 : / @draishwaryakelkar • 📌𝗙𝗮𝗰𝗲𝗯𝗼𝗼𝗸 : / draishwaryakelkar • 📌𝗧𝘄𝗶𝘁𝘁𝗲𝗿: / aishwayadr • 📌𝗜𝗻𝘀𝘁𝗮𝗴𝗿𝗮𝗺 : / clinical.learning • A number of defects in methionine metabolism lead to accumulation of homocysteine (and its dimer, homocystine) with adverse effects including thrombotic tendency, lens dislocation, and central nervous system and skeletal abnormalities. • Cystinuria is a rare condition in which stones made from an amino acid called cysteine form in the kidney, ureter, and bladder. Cystine is formed when two molecules of an amino acid called cysteine are bound together. The condition is passed down through families. • Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. • • #biochemistry #mbbs #homocysteine #chemistry #medicalstudents #methioninemetabolism #disordersofmethioninemetabolism

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