Results 1 to 10 of about 6,948 (153)

Editorial: Inborn errors of carbohydrate metabolism [PDF]

Frontiers in Genetics
Iván Martínez-Duncker, Ida Vanessa Doederlein-Schwartz, Melania Abreu-González, José Elías García-Ortiz   +3 more
doaj   +5 more sources

Editorial: Nutritional management of patients with inborn errors of metabolism [PDF]

Frontiers in Nutrition
Consuelo Pedrón-Giner, Luis Aldamiz-Echevarria, María L. Couce, María L. Couce   +3 more
doaj   +2 more sources

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Molecular Genetics and Metabolism Reports, 2023
The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi   +6 more
doaj   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

BMC Pediatrics, 2019
Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna   +2 more
doaj   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation

Scientific Reports, 2017
Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial ...
Janne Purhonen, Jayasimman Rajendran, Matthias Mörgelin, Kristiina Uusi-Rauva, Shintaro Katayama, Kaarel Krjutskov, Elisabet Einarsdottir, Vidya Velagapudi, Juha Kere, Matti Jauhiainen, Vineta Fellman, Jukka Kallijärvi   +11 more
doaj   +1 more source

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper, Alper Ca, Con, Folkman, Greene, Greene, Kashiwagi, Kashiwagi, Merrill, Nordlie, Raum, Starzl, Starzl, Starzl, Starzl, Starzl   +15 more
core   +1 more source