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Classical homocystinuria presenting with bilateral ectopia lentis and multisystem involvement in a pediatric patient: a case report

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Classical homocystinuria leads to serious complications if not diagnosed early.
A 10-year-old male had markedly elevated serum homocysteine at 50 µmol/l, confirming the diagnosis.
Multidisciplinary management, including high-dose vitamins, improves outcomes for patients with homocystinuria.
Early recognition of symptoms, such as ectopia lentis, can aid in prompt diagnosis and treatment.

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Case underlines the importance of early diagnosis of homocystinuria and its multisystem complications in children.

Abhinay et al. (2025) studied this question.

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