Resumo

CORNEJO-OLIVAS, Mario R et al. Homocystinuria, a metabolic disease of late diagnosis in Peru. Rev Neuropsiquiatr [online]. 2015, vol.78, n.4, pp.240-247. ISSN 0034-8597.

Homocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, dueto mutations within the CBS gene(Cr21q22.3). Here in we report a 17 years old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to alacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of new born screening, which is still unavailable in Peru.

Palavras-chave : Homocystinuria; marphanoid habitus; metabolic disorders; Peru; delayed diagnosis.

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