Urea Cycle Disorders Animation : USMLE Step 1
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Urea Cycle Disorders Animation : USMLE Step 1
Urea cycle disorders (UCDs) are a group of rare genetic conditions characterized by the body's inability to properly metabolize ammonia, a toxic byproduct of protein breakdown 🧬🚫. This malfunction leads to the accumulation of ammonia in the bloodstream, which can cause serious neurological damage and, in severe cases, can be life-threatening 🚨🧠. UCDs are caused by mutations in the genes that encode enzymes involved in the urea cycle, a critical pathway in the liver that converts ammonia into urea, which is then excreted in the urine 🚽💧. Symptoms can range from lethargy and vomiting in newborns to cognitive impairments and behavioral issues in older children and adults. Early diagnosis and treatment, including dietary restrictions and medications to remove ammonia from the body, are crucial for managing UCDs and preventing long-term damage 🍽️💊.
Here's a list of the primary urea cycle disorders:
N-Acetylglutamate Synthase Deficiency (NAGS Deficiency)
Deficiency in the production of N-acetylglutamate, a necessary cofactor for the urea cycle to initiate.
Carbamoyl Phosphate Synthetase I Deficiency (CPS1 Deficiency)
A deficiency in the enzyme responsible for the first step in the urea cycle, converting ammonia to carbamoyl phosphate.
Ornithine Transcarbamylase Deficiency (OTC Deficiency)
A defect in the enzyme that combines ornithine and carbamoyl phosphate to form citrulline. This is the most common UCD.
Argininosuccinate Synthetase Deficiency (Citrullinemia Type I)
A deficiency in the enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate.
Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
A deficiency in the enzyme that breaks down argininosuccinate into arginine and fumarate.
Arginase Deficiency (Argininemia)
A defect in the enzyme arginase, which converts arginine to ornithine and urea, the final step in the urea cycle.
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
A disorder affecting the transport of ornithine into the mitochondria, impairing the urea cycle's function.
Each of these disorders varies in severity and age of onset, ranging from severe neonatal forms to milder late-onset forms. Diagnosis typically involves blood and urine tests to measure levels of ammonia and amino acids, and genetic testing to identify specific enzyme deficiencies. Management and treatment strategies may include dietary protein restriction, supplementation with specific amino acids, medications to remove ammonia from the bloodstream, and, in severe cases, liver transplantation.
#UreaCycleDisorders #GeneticConditions #AmmoniaToxicity #RareDiseases #MetabolicDisorders #fmge #fmgevideos #rapidrevisionfmge #fmgejan2023 #mbbslectures #nationalexitexam #nationalexittest #neetpg #usmlepreparation #usmlestep1 #fmge #usmle #drgbhanuprakash #medicalstudents #medicalstudent #medicalcollege #neetpg2023 #usmleprep #usmlevideos #usmlestep1videos #medicalstudents #neetpgvideos #ureacycle #ureacycledisorders
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Urea Cycle Disorders Animation : USMLE Step 1
Urea cycle disorders (UCDs) are a group of rare genetic conditions characterized by the body's inability to properly metabolize ammonia, a toxic byproduct of protein breakdown 🧬🚫. This malfunction leads to the accumulation of ammonia in the bloodstream, which can cause serious neurological damage and, in severe cases, can be life-threatening 🚨🧠. UCDs are caused by mutations in the genes that encode enzymes involved in the urea cycle, a critical pathway in the liver that converts ammonia into urea, which is then excreted in the urine 🚽💧. Symptoms can range from lethargy and vomiting in newborns to cognitive impairments and behavioral issues in older children and adults. Early diagnosis and treatment, including dietary restrictions and medications to remove ammonia from the body, are crucial for managing UCDs and preventing long-term damage 🍽️💊.
Here's a list of the primary urea cycle disorders:
N-Acetylglutamate Synthase Deficiency (NAGS Deficiency)
Deficiency in the production of N-acetylglutamate, a necessary cofactor for the urea cycle to initiate.
Carbamoyl Phosphate Synthetase I Deficiency (CPS1 Deficiency)
A deficiency in the enzyme responsible for the first step in the urea cycle, converting ammonia to carbamoyl phosphate.
Ornithine Transcarbamylase Deficiency (OTC Deficiency)
A defect in the enzyme that combines ornithine and carbamoyl phosphate to form citrulline. This is the most common UCD.
Argininosuccinate Synthetase Deficiency (Citrullinemia Type I)
A deficiency in the enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate.
Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
A deficiency in the enzyme that breaks down argininosuccinate into arginine and fumarate.
Arginase Deficiency (Argininemia)
A defect in the enzyme arginase, which converts arginine to ornithine and urea, the final step in the urea cycle.
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
A disorder affecting the transport of ornithine into the mitochondria, impairing the urea cycle's function.
Each of these disorders varies in severity and age of onset, ranging from severe neonatal forms to milder late-onset forms. Diagnosis typically involves blood and urine tests to measure levels of ammonia and amino acids, and genetic testing to identify specific enzyme deficiencies. Management and treatment strategies may include dietary protein restriction, supplementation with specific amino acids, medications to remove ammonia from the bloodstream, and, in severe cases, liver transplantation.
#UreaCycleDisorders #GeneticConditions #AmmoniaToxicity #RareDiseases #MetabolicDisorders #fmge #fmgevideos #rapidrevisionfmge #fmgejan2023 #mbbslectures #nationalexitexam #nationalexittest #neetpg #usmlepreparation #usmlestep1 #fmge #usmle #drgbhanuprakash #medicalstudents #medicalstudent #medicalcollege #neetpg2023 #usmleprep #usmlevideos #usmlestep1videos #medicalstudents #neetpgvideos #ureacycle #ureacycledisorders
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