Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychol...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
8 February 2018
|
| In: |
Journal of inherited metabolic disease
Year: 2018, Jahrgang: 41, Heft: 4, Pages: 657-667 |
| ISSN: | 1573-2665 |
| DOI: | 10.1007/s10545-017-0132-5 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1007/s10545-017-0132-5
|
| Verfasserangaben: | Susan E. Waisbren, David Cuthbertson, Peter Burgard, Amy Holbert, Robert McCarter, Stephen Cederbaum, Members of the Urea Cycle Disorders Consortium |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1663490031 | ||
| 003 | DE-627 | ||
| 005 | 20240323101132.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 190423s2018 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10545-017-0132-5 |2 doi | |
| 035 | |a (DE-627)1663490031 | ||
| 035 | |a (DE-599)KXP1663490031 | ||
| 035 | |a (OCoLC)1341210108 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Waisbren, Susan E. |e VerfasserIn |0 (DE-588)1184336164 |0 (DE-627)1663491755 |4 aut | |
| 245 | 1 | 0 | |a Biochemical markers and neuropsychological functioning in distal urea cycle disorders |c Susan E. Waisbren, David Cuthbertson, Peter Burgard, Amy Holbert, Robert McCarter, Stephen Cederbaum, Members of the Urea Cycle Disorders Consortium |
| 264 | 1 | |c 8 February 2018 | |
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 23.04.2019 | ||
| 520 | |a Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD). Laboratory results and test scores from neuropsychological evaluations were assessed in 145 study participants, ages 3 years and older, with ASD (n = 64), ASA (n = 65) and ARGD (n = 16). Mean full scale IQ was below the population mean of 100 ± 15 for all groups: (ASD = 79 ± 24; ASA = 71 ± 21; ARGD = 65 ± 19). The greatest deficits were noted in visual performance and motor skills for all groups. While ammonia levels remain prominent as prognostic biomarkers, other biomarkers may be equally valuable as correlates of neuropsychological functioning. Cumulative exposure to the biomarkers included in the study proved to be highly sensitive indicators of neuropsychological outcomes, even when below the cut-off levels generally considered toxic. Blood levels of biomarkers obtained on the day of neuropsychological evaluations were not correlated with measures of functioning for any disorder in any domain. The importance of cumulative exposure supports early identification and confirms the need for well-controlled management of all biochemical abnormalities (and not just ammonia) that occur in urea cycle disorders. | ||
| 700 | 1 | |a Burgard, Peter |e VerfasserIn |0 (DE-588)1050864808 |0 (DE-627)785218416 |0 (DE-576)160485630 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of inherited metabolic disease |d Hoboken, NJ : Wiley, 1978 |g 41(2018), 4, Seite 657-667 |h Online-Ressource |w (DE-627)320457753 |w (DE-600)2006875-X |w (DE-576)105704652 |x 1573-2665 |7 nnas |a Biochemical markers and neuropsychological functioning in distal urea cycle disorders |
| 773 | 1 | 8 | |g volume:41 |g year:2018 |g number:4 |g pages:657-667 |g extent:11 |a Biochemical markers and neuropsychological functioning in distal urea cycle disorders |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s10545-017-0132-5 |x Verlag |x Resolving-System |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20190423 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 1050864808 |a Burgard, Peter |m 1050864808:Burgard, Peter |d 910000 |d 910500 |e 910000PB1050864808 |e 910500PB1050864808 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 999 | |a KXP-PPN1663490031 |e 3452986314 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"relHost":[{"title":[{"title_sort":"Journal of inherited metabolic disease","subtitle":"JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism","title":"Journal of inherited metabolic disease"}],"pubHistory":["1.1978 -"],"titleAlt":[{"title":"JIMD"}],"part":{"pages":"657-667","issue":"4","year":"2018","extent":"11","volume":"41","text":"41(2018), 4, Seite 657-667"},"disp":"Biochemical markers and neuropsychological functioning in distal urea cycle disordersJournal of inherited metabolic disease","note":["Gesehen am 11.03.20","Ungezählte Beil.: Suppl"],"type":{"media":"Online-Ressource","bibl":"periodical"},"recId":"320457753","language":["eng"],"origin":[{"dateIssuedDisp":"1978-","dateIssuedKey":"1978","publisher":"Wiley ; Kluwer ; Springer Science + Business Media B.V","publisherPlace":"Hoboken, NJ ; Dordrecht [u.a.] ; Dordrecht [u.a.]"}],"id":{"zdb":["2006875-X"],"eki":["320457753"],"doi":["10.1002/(ISSN)1573-2665"],"issn":["1573-2665"]},"physDesc":[{"extent":"Online-Ressource"}]}],"physDesc":[{"extent":"11 S."}],"name":{"displayForm":["Susan E. Waisbren, David Cuthbertson, Peter Burgard, Amy Holbert, Robert McCarter, Stephen Cederbaum, Members of the Urea Cycle Disorders Consortium"]},"id":{"doi":["10.1007/s10545-017-0132-5"],"eki":["1663490031"]},"origin":[{"dateIssuedDisp":"8 February 2018","dateIssuedKey":"2018"}],"recId":"1663490031","language":["eng"],"note":["Gesehen am 23.04.2019"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"person":[{"roleDisplay":"VerfasserIn","display":"Waisbren, Susan E.","role":"aut","family":"Waisbren","given":"Susan E."},{"family":"Burgard","given":"Peter","display":"Burgard, Peter","roleDisplay":"VerfasserIn","role":"aut"}],"title":[{"title_sort":"Biochemical markers and neuropsychological functioning in distal urea cycle disorders","title":"Biochemical markers and neuropsychological functioning in distal urea cycle disorders"}]} | ||
| SRT | |a WAISBRENSUBIOCHEMICA8201 | ||