Ornithine transcarbamylase (OTC) deficiency
My child is suspected of having a urea cycle disorder. What tests should be performed?
The basic tests to make the diagnosis a urea cycle disorder such as ornithine transcarbamylase deficiency are blood ammonia, plasma amino acids, and urine organic acids. These laboratory tests measure substances that reflect how well the urea cycle is working. When there is a block in one of the enzymes in the urea cycle, certain chemical compounds build up behind the block and others are not adequately formed beyond the block. It is like the effects of a dam.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/ornithine-transcarbamylase-deficiency/living-with/18628 • DATE UPDATED: 2019-12-03
Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine Transcarbamylase Deficiency. 2013 Aug 29 [Updated 2016 Apr 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154378/