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Homocystinuria / Homocysteine / Marfan syndrome / Methionine / Cystathionine beta synthase / Cystinuria / Newborn screening / Hypermethioninemia / Health / Chemistry / Genetic genealogy


Homocystinuria Homocystinuria is an autosomal recessive disorder of methionine metabolism. The most common cause of homocystinuria is a deficiency of the amino acid cystathionine B-synthase. Due to this deficiency, eleva
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Document Date: 2011-11-10 05:38:06


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MedicalCondition

blood clots / autosomal recessive disorder / deficiency / Homocystinuria Homocystinuria / eye and severe myopia / mental retardation / scoliosis / venous thromboses / Marfan’s syndrome / seizures / homocystinuria / /

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Position

Metabolic Specialist / /

ProvinceOrState

Maine / /

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