Article
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Clinical genetics - 1 Jun 2012
Zaidi S H E, Faiyaz-Ul-Haque M, Shuaib T, Balobaid A, Rahbeeni Z, Abalkhail H, Al-Abdullatif A, Al-Hassnan Z, Peltekova I, Al-Owain M
Abstract excerpt
Homocystinuria due to cystathionine beta synthase (CBS) deficiency results in elevated plasma homocysteine and methionine levels, which are associated with multiple organ pathologies, including vascular, respiratory, musculoskeletal, nervous, and ocular tissues. This autosomal recessive disorder is caused by homozygous or compound heterozygous mutations in the CBS gene encoding for the CBS. Although...
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