Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males

Clin Chem. 2020 Jul 1;66(7):988-989. doi: 10.1093/clinchem/hvaa101.

Authors

Hind Alsharhan^{1

2

3}, Hana Alharbi², Jessica Priestley², Rebecca Ganetzky^{1

2

4}, Miao He¹

Affiliations

¹ Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
² Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, PA.
³ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
⁴ Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

No abstract available

Keywords: OTC; carbamoyl phosphate; organic acids; orotic acid; pyrimidine; uracil.

Publication types

Case Reports

MeSH terms

Biomarkers / urine
Humans
Infant
Male
Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
Ornithine Carbamoyltransferase Deficiency Disease / urine
Uracil / urine*

Substances

Biomarkers
Uracil

Grants and funding

K08 DK113250/DK/NIDDK NIH HHS/United States