MARC details
| 000 -LEADER |
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| fixed length control field |
02899nam a22003137a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
191010s20192019 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
1552-4825 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1002/ajmg.a.61329 [doi] |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
31441224 |
| 245 ## - TITLE STATEMENT |
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| Title |
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review. |
| 251 ## - Source |
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| Source |
American Journal of Medical Genetics. Part A. 179(10):2091-2100, 2019 Oct. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Am J Med Genet A. 179(10):2091-2100, 2019 Oct. |
| 253 ## - Journal Name |
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| Journal name |
American journal of medical genetics. Part A |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2019 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2020 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
ppublish |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2019-10-10 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated. We aimed to compare the outcomes of maternal OTCD when diagnosis is known prior to pregnancy to when diagnosis is made during pregnancy. We performed a systematic literature review on maternal OTCD using the databases Ovid MEDLINE and PubMed from 1982 through 2018. Studies were included if addressed maternal OTCD signs, symptoms, and detailed pregnancy outcomes. We calculated the median or the mean for continuous variables and percentages for categorical variables. Of 36 cases of maternal OTCD, 20 (55%) were diagnosed prior to pregnancy while 16 (45%) were not. In the 20 patients diagnosed prior to pregnancy, 7 (35%) had either a neurologic or psychiatric presentation during pregnancy or postpartum. Two hyperammonemic patients (11%) experienced ICU admission, dialysis, and coma with no maternal deaths. All had a favorable outcome. In the 16 patients not known to have maternal OTCD prior to pregnancy, 13 (81%) had neurologic or psychiatric presentation during pregnancy or postpartum. Four presented with hyperemesis gravidarum. Eleven (69%) hyperammonemic patients had ICU admission and coma and 7 (47%) of them had dialysis. There were 5 (31%) maternal deaths. Three patients (19%) had prolonged hospitalization course. Overall, three male neonatal deaths were reported. Three other male children had liver transplant. Maternal OTCD is associated with high maternal and neonatal morbidity and mortality when diagnosis is made during pregnancy compared to when diagnosis is known prior to pregnancy. Copyright (c) 2019 Wiley Periodicals, Inc. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
IN PROCESS -- NOT YET INDEXED |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Washington Hospital Center |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
Obstetrics and Gynecology |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Haddad, Andrew |
| 790 ## - Authors |
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| All authors |
Al-Kouatly HB, Baxter JK, Berghella V, Gahl WA, Haddad A, Torkzaban M |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1002/ajmg.a.61329">https://dx.doi.org/10.1002/ajmg.a.61329</a> |
| Public note |
https://dx.doi.org/10.1002/ajmg.a.61329 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
