Homocystinuria

Homocystinuria is a rare, inherited inborn error of amino acid metabolism most commonly caused by an autosomal recessive deficiency in cystathionine beta-synthase (CBS), or less frequently by defects in cobalamin or folate remethylation pathways Pathognomonic and defining features include ectopia lentis (lens dislocation) and severe myopia, skeletal abnormalities resembling Marfan syndrome (such as tall stature, scoliosis, and early-onset osteoporosis), developmental delay or intellectual disabi...

Homocystinuria is a rare, inherited inborn error of amino acid metabolism most commonly caused by an autosomal recessive deficiency in cystathionine beta-synthase (CBS), or less frequently by defects in cobalamin or folate remethylation pathways This defect impairs the transsulfuration or remethylation of homocysteine, leading to the toxic systemic accumulation of homocysteine and its metabolic precursors, such as methionine, in the blood and urine Pathognomonic and defining features include ect...

This defect impairs the transsulfuration or remethylation of homocysteine, leading to the toxic systemic accumulation of homocysteine and its metabolic precursors, such as methionine, in the blood and urine

The disease affects multiple organ systems, with clinical manifestations typically presenting in infancy or childhood

The disease affects multiple organ systems, with clinical manifestations typically presenting in infancy or childhood

Pathognomonic and defining features include ectopia lentis (lens dislocation) and severe myopia, skeletal abnormalities resembling Marfan syndrome (such as tall stature, scoliosis, and early-onset osteoporosis), developmental delay or intellectual disability, and an elevated lifelong risk of life-threatening arterial and venous thromboembolism