homocystinuria

     

Homocystinuria, also known as Cystathionine beta synthase eficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.

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  • @davejgiles erm read the first bit of this and then you should get it i think,i have a substitute medicine :)
  • Authors' Reply: Comment to Varied phenotype of Homocystinuria: Possible diagnostic error
  • RT @FredrichLNierra: Phenylketonuria, Tyrosinemia, Alkaptonuria, Isovaleric Acidemia, Homocystinuria and Argininosuccinic Aciduria. Wew
  • Phenylketonuria, Tyrosinemia, Alkaptonuria, Isovaleric Acidemia, Homocystinuria and Argininosuccinic Aciduria. Wew
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