A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam

Autor: Dien Minh Tran, Trang Thi Thu Tran, Quyen Hue Luong, Mai Thi Chi Tran

Publikováno v: Heliyon, Vol 10, Iss 16, Pp e36003- (2024)

Introduction: To date, newborn screening (NBS) for proximal urea cycle disorders, including Ornithine transcarbamylase deficiency (OTCD), was not recommended due to the lack of appropriate tests and insufficient evidence of the benefits. This study a

Externí odkaz: https://doaj.org/article/238f0a22413a475182e9a9cf7622a344

Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness

Autor: Marie Smedberg, Johan Helleberg, Åke Norberg, Inga Tjäder, Olav Rooyackers, Jan Wernerman

Publikováno v: Critical Care, Vol 25, Iss 1, Pp 1-9 (2021)

Abstract Background A plasma glutamine concentration outside the normal range at Intensive Care Unit (ICU) admission has been reported to be associated with an increased mortality rate. Whereas hypoglutaminemia has been frequently reported, the numbe

Externí odkaz: https://doaj.org/article/a8b69ef7c4bd4b1580044011a63d172e

Endogenous production of glutamine and plasma glutamine concentration in critically ill patients

Autor: Jan Wernerman, Inga Tjäder, Marie Smedberg, Åke Norberg, Olav Rooyackers

Publikováno v: Clinical nutrition ESPEN. 40

Summary Background Glutamine plasma concentrations outside the normal range at intensive care unit (ICU) admission are associated with unfavorable outcomes. Based on the hypothesis that hypoglutaminemia in the ICU is the result of an increased utiliz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0e62b98b1a37162637106614ebba258
https://pubmed.ncbi.nlm.nih.gov/33183541

Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy

Autor: Matthias Gautschi, Jukka Takala, Reto Etter, Luca Cioccari, Anja Weck

Publikováno v: Cioccari, Luca; Gautschi, Matthias; Etter, Reto; Weck, Anja; Takala, Jukka (2015). Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy. Critical care medicine, 43(10), e458-e460. Lippincott Williams & Wilkins 10.1097/CCM.0000000000001151

OBJECTIVE We report a case of a woman with hyperammonemic encephalopathy following glutamine supplementation. DESIGN Case report. INTERVENTIONS Plasma amino acid analysis suggestive of a urea cycle defect and initiation of a treatment with lactulose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08c5faffe3809c09162c654d5b56265f
https://pubmed.ncbi.nlm.nih.gov/26035146

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