U01.18.006 Homocystinuria
Study this flashcard to understand the metabolic defect and clinical presentation of Homocystinuria. Identify the enzyme deficiencies causing elevated homocysteine levels, leading to vascular thrombosis, lens subluxation, and skeletal abnormalities for USMLE Step 1.
Question tags amino acid metabolism, autosomal recessive, B12 deficiency, B6 deficiency, biochemistry flashcards, connective tissue abnormalities, cystathionine beta-synthase deficiency, elevated homocysteine, enzyme deficiency, folate deficiency, genetic disorder, Homocystinuria, Inborn Errors of Metabolism, intellectual disability, lens subluxation, Marfanoid habitus, metabolic disorder, methionine metabolism, USMLE Step 1, vascular thrombosis
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