Publication
Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma
| dc.contributor.author | Valongo, Carla | |
| dc.contributor.author | Rodrigues, Marilia | |
| dc.contributor.author | Dias, Aureliano | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2017-02-17T09:51:19Z | |
| dc.date.available | 2017-02-17T09:51:19Z | |
| dc.date.issued | 2013-09 | |
| dc.description.abstract | Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. Patient and methods: The patient, a 38 year-old-woman, was referred to our lab with severe arthritis in the hips and knees, calcinosis and stage V chronic renal failure under hemodialysis. No urine samples were available to perform organic acids analysis so we studied patient plasma. Samples were extracted with ethylacetate and analyzed by GC-MS. Results: Plasmatic organic acids profile in two different samples revealed a marked excretion of oxalate (131 and 125 µmol/L; controls: 0-5) and glycolate (362 and 338 µmol/L; controls: 9-42). Glicerate concentration was normal (17 and 15 µmol/L; controls: 0-24). Conclusions: The usual biochemical indicator of PH1 is a persistently and markedly elevated urine oxalate. In the absence of urine samples, this biochemical diagnosis can also be done in plasma samples. PH1 is a treatable organic aciduria and an early and accurate diagnosis preserves renal function. So, it is important to screen for PH1 in patients with recurrent urolithiasis or unexplained renal insufficiency. | pt_PT |
| dc.description.sponsorship | Abstract publicado em: J Inherit Metab Dis. 2013;36(Suppl 2):S178. (P-243). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4224 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Hyperoxaluria Type 1 | pt_PT |
| dc.subject | Organic Aciduria | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Doenças Raras | pt_PT |
| dc.title | Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Barcelona, Espanha | pt_PT |
| oaire.citation.title | 12th International Congress of Inborn Errors of Metabolism (ICIEM), 3-6 September 2013 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |