Identification of human D lactate dehydrogenase deficiency

D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss of function and are associated with elevated plasm...

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Autores principales:	Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50
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spelling	oai:doaj.org-article:0dc2cc8f517f49eaa57ea85a84853e502021-12-02T15:35:08ZIdentification of human D lactate dehydrogenase deficiency10.1038/s41467-019-09458-62041-1723https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e502019-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09458-6https://doaj.org/toc/2041-1723D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss of function and are associated with elevated plasma D-lactate.Glen R. MonroeAlbertien M. van EerdeFederico TessadoriKaren J. DuranSanne M. C. SavelbergJohanna C. van AlfenPaulien A. TerhalSaskia N. van der CrabbenKlaske D. LichtenbeltSabine A. FuchsJohan GerritsMarkus J. van RoosmalenKoen L. van GassenMirjam van AalderenBart G. KootMarlies OostendorpMarinus DuranGepke VisserTom J. de KoningFrancesco CalìPaolo BoscoKarin GeleijnsMonique G. M. de Sain-van der VeldenNine V. KnoersJeroen BakkersNanda M. Verhoeven-DuifGijs van HaaftenJudith J. JansNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Glen R. Monroe Albertien M. van Eerde Federico Tessadori Karen J. Duran Sanne M. C. Savelberg Johanna C. van Alfen Paulien A. Terhal Saskia N. van der Crabben Klaske D. Lichtenbelt Sabine A. Fuchs Johan Gerrits Markus J. van Roosmalen Koen L. van Gassen Mirjam van Aalderen Bart G. Koot Marlies Oostendorp Marinus Duran Gepke Visser Tom J. de Koning Francesco Calì Paolo Bosco Karin Geleijns Monique G. M. de Sain-van der Velden Nine V. Knoers Jeroen Bakkers Nanda M. Verhoeven-Duif Gijs van Haaften Judith J. Jans Identification of human D lactate dehydrogenase deficiency
description	D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss of function and are associated with elevated plasma D-lactate.
format	article
author	Glen R. Monroe Albertien M. van Eerde Federico Tessadori Karen J. Duran Sanne M. C. Savelberg Johanna C. van Alfen Paulien A. Terhal Saskia N. van der Crabben Klaske D. Lichtenbelt Sabine A. Fuchs Johan Gerrits Markus J. van Roosmalen Koen L. van Gassen Mirjam van Aalderen Bart G. Koot Marlies Oostendorp Marinus Duran Gepke Visser Tom J. de Koning Francesco Calì Paolo Bosco Karin Geleijns Monique G. M. de Sain-van der Velden Nine V. Knoers Jeroen Bakkers Nanda M. Verhoeven-Duif Gijs van Haaften Judith J. Jans
author_facet	Glen R. Monroe Albertien M. van Eerde Federico Tessadori Karen J. Duran Sanne M. C. Savelberg Johanna C. van Alfen Paulien A. Terhal Saskia N. van der Crabben Klaske D. Lichtenbelt Sabine A. Fuchs Johan Gerrits Markus J. van Roosmalen Koen L. van Gassen Mirjam van Aalderen Bart G. Koot Marlies Oostendorp Marinus Duran Gepke Visser Tom J. de Koning Francesco Calì Paolo Bosco Karin Geleijns Monique G. M. de Sain-van der Velden Nine V. Knoers Jeroen Bakkers Nanda M. Verhoeven-Duif Gijs van Haaften Judith J. Jans
author_sort	Glen R. Monroe
title	Identification of human D lactate dehydrogenase deficiency
title_short	Identification of human D lactate dehydrogenase deficiency
title_full	Identification of human D lactate dehydrogenase deficiency
title_fullStr	Identification of human D lactate dehydrogenase deficiency
title_full_unstemmed	Identification of human D lactate dehydrogenase deficiency
title_sort	identification of human d lactate dehydrogenase deficiency
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50
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Identification of human D lactate dehydrogenase deficiency

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