cystathioninuria (Q5201186)

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An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31.
  • cystathione gamma-lyase deficiency syndrome
  • gamma-cystathionase deficiency
  • cystathionase deficiency
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English
cystathioninuria
An amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31.
  • cystathione gamma-lyase deficiency syndrome
  • gamma-cystathionase deficiency
  • cystathionase deficiency

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