A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency
نویسندگان
چکیده
منابع مشابه
Homocystinuria due to cystathionine beta synthase deficiency.
A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...
متن کاملHomocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency. The drug decreased the plasma concentration and urinary excretion of methionine and homocystine and the urinary excretion of homolanthionine and the homocysteine-cysteine mixed disulfide. Urinary cystine rose somewhat. Oral methionine tolerance tests before and...
متن کاملHomocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most frequent mutation in the cohort investigated was splice mutation IVS11-2a->c. We detected one new non...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2010
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2009.09.009