Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency

被引：4

作者：

van Kuilenburg, A. B. P.

van Maldegem, B. T.

Abeling, N. G. G. M.

Wijburg, F. A.

Duran, M.

机构：

[1] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Lab Genet Metabol Dis, NL-1100 DE Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Lab Genet Metabol Dis, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2006年 / 25卷 / 9-11期

关键词：

pyrimidine de novo; urea cycle; ornithine transcarbamylase deficiency;

D O I：

10.1080/15257770600894634

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Analysis of pyrimidine synthesis de novo intermediates and pyrimidine degradation products in urine samples from a decompensated patient with an ornithine transcarbamylase deficiency showed a strikingly aberrant metabolic profile. Strongly elevated levels of N-carbamyl-aspartate, orotate and uracil were present whereas the concentration of uridine was only marginally increased. The level of pyrimidine excretion appeared to be independent of the ammonia levels in blood, which were only mildly increased.

引用

页码：1251 / 1255

页数：5