Maple Syrup Urine Disease : Pathophysiology, Clinical features, Diagnosis , Treatment : USMLE Step 1
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📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-
📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:- Instagram: drgbhanuprakash
📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr
📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash
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! 🌈🩸
#msudigital #MapleSyrupUrineDisease #MetabolicDisorder #USMLEStep1 #MedicalEducation #Biochemistry #Genetics #Pediatrics #MedStudentLife #ExamPrep #StudyTips #NewbornCare #RareDiseases #InbornErrorsOfMetabolism #ClinicalBiochemistry #GeneticDisorders #PediatricMedicine #Neurotoxicology #LiverTransplant #MedicalStudents #MedSchool #MedicalKnowledge #USMLEPrep #MetabolicCrisis #InheritedMetabolicDisorders #BoardExamPrep #MedEd #Pathophysiology #ClinicalFeatures #Diagnosis #Treatment #HealthcareEducation
📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr
📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash
Maple Syrup Urine Disease : Pathophysiology, Clinical features, Diagnosis , Treatment : USMLE Step 1
--------------------------------------------------------------------------------------------------------------------------------------------------------------
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! 🌈🩸
#msudigital #MapleSyrupUrineDisease #MetabolicDisorder #USMLEStep1 #MedicalEducation #Biochemistry #Genetics #Pediatrics #MedStudentLife #ExamPrep #StudyTips #NewbornCare #RareDiseases #InbornErrorsOfMetabolism #ClinicalBiochemistry #GeneticDisorders #PediatricMedicine #Neurotoxicology #LiverTransplant #MedicalStudents #MedSchool #MedicalKnowledge #USMLEPrep #MetabolicCrisis #InheritedMetabolicDisorders #BoardExamPrep #MedEd #Pathophysiology #ClinicalFeatures #Diagnosis #Treatment #HealthcareEducation
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