Nature Communications (Apr 2019)
Identification of human D lactate dehydrogenase deficiency
- 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
Affiliations
- Glen R. Monroe
- Department of Genetics, University Medical Center Utrecht
- Albertien M. van Eerde
- Department of Genetics, University Medical Center Utrecht
- Federico Tessadori
- Department of Genetics, University Medical Center Utrecht
- Karen J. Duran
- Department of Genetics, University Medical Center Utrecht
- Sanne M. C. Savelberg
- Department of Genetics, University Medical Center Utrecht
- Johanna C. van Alfen
- Bartiméus, Institute for the Visually Impaired
- Paulien A. Terhal
- Department of Genetics, University Medical Center Utrecht
- Saskia N. van der Crabben
- Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht
- Klaske D. Lichtenbelt
- Department of Genetics, University Medical Center Utrecht
- Sabine A. Fuchs
- Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht
- Johan Gerrits
- Department of Genetics, University Medical Center Utrecht
- Markus J. van Roosmalen
- Department of Genetics, University Medical Center Utrecht
- Koen L. van Gassen
- Department of Genetics, University Medical Center Utrecht
- Mirjam van Aalderen
- Department of Genetics, University Medical Center Utrecht
- Bart G. Koot
- Department of Pediatric Gastroenterology and Nutrition, Academic Medical Center
- Marlies Oostendorp
- Department of Clinical Chemistry and Haematology, University Medical Center Utrecht
- Marinus Duran
- Laboratory Genetic Metabolic Diseases, Academic Medical Center
- Gepke Visser
- Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht
- Tom J. de Koning
- Section of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen
- Francesco Calì
- Oasi Research Institute—IRCCS
- Paolo Bosco
- Oasi Research Institute—IRCCS
- Karin Geleijns
- Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht
- Monique G. M. de Sain-van der Velden
- Department of Genetics, University Medical Center Utrecht
- Nine V. Knoers
- Department of Genetics, University Medical Center Utrecht
- Jeroen Bakkers
- Hubrecht Institute-KNAW and University Medical Center Utrecht
- Nanda M. Verhoeven-Duif
- Department of Genetics, University Medical Center Utrecht
- Gijs van Haaften
- Department of Genetics, University Medical Center Utrecht
- Judith J. Jans
- Department of Genetics, University Medical Center Utrecht
- DOI
- https://doi.org/10.1038/s41467-019-09458-6
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 8
Abstract
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.
