کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1966122 1538715 2010 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria
چکیده انگلیسی

BackgroundMethylmalonic aciduria combined with homocystinuria (MMA–HC) is the biochemical trait of a metabolic disorder resulting from impaired conversion of dietary cobalamin (cbl, or vitamin B12) to its two metabolically active forms. Effects on urinary purine and pyrimidine levels have not been described for this condition.MethodsUrine samples were collected from three patients with methylmalonic aciduria combined with homocystinuria and from 70 healthy subjects. Urinary purine and pyrimidine levels were quantitated by the use of LC/UV–Vis and LC/ESI/MS.ResultsHigher urine levels of pyrimidines were detected with both methods in patients compared to controls.ConclusionMethylmalonic aciduria with homocystinuria is due to deficiency of the enzyme, cobalamin reductase. The enzyme defect leads to altered hepatic metabolism, which appears to modify circulating pyrimidine levels.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 411, Issues 11–12, 3 June 2010, Pages 853–858
نویسندگان
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