Organic Acidemias: A Comprehensive Q&A Review for USMLE Step 1

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Question: What is organic acidemia?
Answer: Organic acidemia is a condition that commonly presents in infancy with symptoms such as poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, and seizures.Question: What is the cause of organic acid accumulation in organic acidemia?
Answer: Organic acid accumulation in organic acidemia is caused by the inhibition of gluconeogenesis and the urea cycle.Question: What are the symptoms of propionic acidemia?
Answer: Propionic acidemia is caused by a deficiency of propionyl-CoA carboxylase and results in the accumulation of propionyl-CoA and methylmalonic acid.Question: What is the treatment for propionic acidemia?
Answer: The treatment for propionic acidemia involves a low-protein diet that is limited in substances that metabolize into propionyl-CoA, including valine, odd-chain fatty acids, methionine, isoleucine, and threonine (VOMIT).Question: What is methylmalonic acidemia?
Answer: Methylmalonic acidemia is a condition caused by a deficiency of methylmalonyl-CoA mutase or vitamin B12. Question: What are the symptoms of methylmalonic acidemia?
Answer: The symptoms of methylmalonic acidemia are not specified in the text.Question: What are the causes of methylmalonic acidemia?
Answer: Methylmalonic acidemia is caused by a deficiency of methylmalonyl-CoA mutase or a deficiency of vitamin B12. Question: What is the relationship between propionyl-CoA and methylmalonic acid in propionic acidemia?
Answer: In propionic acidemia, there is a deficiency of propionyl-CoA carboxylase which leads to the accumulation of propionyl-CoA and methylmalonic acid.Question: How does organic acidemia inhibit gluconeogenesis?
Answer: The accumulation of organic acids in organic acidemia inhibits gluconeogenesis.Question: How does organic acidemia affect the urea cycle?
Answer: Organic acidemia affects the urea cycle by inhibiting it.Question: What is the relationship between a low-protein diet and the treatment of propionic acidemia?
Answer: A low-protein diet is part of the treatment for propionic acidemia as it helps limit substances that metabolize into propionyl-CoA.Question: What is the significance of VOMIT in the treatment of propionic acidemia?
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This is truly the worst way to study for Step 1.

bronxbomma