Maple Syrup Urine Disease : Pathophysiology, Clinical features, Diagnosis , Treatment : USMLE Step 1

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Maple Syrup Urine Disease : Pathophysiology, Clinical features, Diagnosis , Treatment : USMLE Step 1
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Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency in the branched-chain α-ketoacid dehydrogenase complex (BCKDC), leading to the accumulation of branched-chain amino acids (leucine, isoleucine, and valine) and their toxic metabolites. 🚫🧪
This enzyme deficiency disrupts the breakdown of these amino acids, causing neurotoxicity, cerebral edema, and severe neurological symptoms. 👶🧠 Clinically, MSUD presents in newborns with poor feeding, vomiting, lethargy, seizures, and a characteristic sweet, maple syrup-like odor of the urine. 🚼🍁 Diagnosis is confirmed by elevated plasma levels of branched-chain amino acids and genetic testing for mutations in the BCKDHA, BCKDHB, or DBT genes. 🧬🔍
Treatment involves strict dietary restriction of BCAAs using specialized medical formulas, careful metabolic management during illness, and possibly liver transplantation to provide a permanent enzyme source. 🥛🩺 Regular monitoring of amino acid levels and neurodevelopmental follow-up are essential to prevent complications. Early detection and intervention are critical to reducing the risk of severe neurological damage! 🌈🩸
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[@waelfadlallah8939]

Thank you, sir 🙏

[@doctorbhanuprakash]

So nice of you