Which of the following is NOT typically associated with homocystinuria?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Homocystinuria is a genetic disorder often resulting from a deficiency of cystathionine beta-synthase, which is crucial for the metabolism of homocysteine. This condition is characterized by a variety of clinical findings.

Thromboembolic events are common in individuals with homocystinuria due to the elevated levels of homocysteine, which is associated with an increased risk of vascular complications. Dislocated lenses are also a hallmark feature of this disorder; patients often present with subluxation of the lens, typically in an upward direction, caused by the effects of high homocysteine levels on connective tissue.

Individuals with homocystinuria can exhibit fair skin, which is related to the metabolic derangements affecting pigmentation, as the condition can disrupt normal folate metabolism, leading to presentations consistent with megaloblastic anemia and other cellular effects.

Severe mental retardation is not a typical feature of homocystinuria. While cognitive impairment can occur in some individuals, it is not universally observed or as prominent as the other clinical presentations. Patients may display various degrees of learning difficulties or developmental issues, but they do not consistently meet the threshold for severe mental retardation. Thus, this aspect is not

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