Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia

Abstract

Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.

Delayed diagnosis of homocystinuria presenting as bilateral congenital lens subluxation

“…Neonatal screening tests used for testing other similar metabolic disorders lack sensitivity in detecting homocystinuria. In most cases, the condition is confirmed after three years of age, presenting with lens subluxation [5]. We report a case of homocystinuria diagnosed in a 26-year-old, who had experienced ocular manifestations of the disease since early childhood.…”

Monogenic signs of susceptibility to ischemic stroke: literature review

“…При гомоцистинурии типа II у некоторых пациентов улучшению состояния способствует применение цианокобаламина (витамина В 12 ) и пиридоксина (витамина В 6 ). Своевременное применение витаминотерапии при генетических нарушениях фолатного цикла позволяет отдалить и уменьшить выраженность сосудистых осложнений [82]. Доказано, что использование фолиевой кислоты (витамин B 9 ), пиридоксина (витамина B 6 ) и цианокобаламина (витамин B 12 ) эффективно снижает уровень гомоцистеина; применение фолиевой кислоты уменьшает частоту или исключает формирование дефекта незаращения нервной трубки и мегалобластную анемию [83].…”

Massive Pulmonary Embolism in a Patient with Undiagnosed Homocystinuria

“…Homocystinuria affects an estimated 1 out of 50,000 to 200,000 people worldwide [1]. The most common form of homocystinuria is caused by a deficiency of cystathionine ß-synthase (CßS), an enzyme that uses pyridoxine (vitamin B6) as a cofactor to catalyze the intracellular conversion of homocysteine to cystathionine and cysteine [1].…”

“…The most common form of homocystinuria is caused by a deficiency of cystathionine ß-synthase (CßS), an enzyme that uses pyridoxine (vitamin B6) as a cofactor to catalyze the intracellular conversion of homocysteine to cystathionine and cysteine [1]. A deficiency of CßS diminishes the rate of this conversion, resulting in the abnormal accumulation of homocysteine in the blood and urine.…”