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Homocystinuria
May 28, 2020
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Homocystinuria is a rare inherited metabolic disorder characterized by the accumulation of homocysteine, an amino acid, in the blood and urine. This condition is caused by deficiencies in enzymes involved in the metabolism of methionine, leading to elevated levels of homocysteine and its metabolites. Homocystinuria can result in a range of clinical manifestations, including ocular, skeletal, vascular, and neurological abnormalities.