Carbohydrate metabolism, inborn errors

Results 1 to 10 of about 3,527 (133)

Editorial: Inborn errors of carbohydrate metabolism volume II [PDF]

Frontiers in Genetics
José Elías García-Ortíz +4 more
doaj +4 more sources

Editorial: Inborn errors of carbohydrate metabolism [PDF]

Frontiers in Genetics
Iván Martínez-Duncker +3 more
doaj +4 more sources

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

Frontiers in Nutrition
Consuelo Pedrón-Giner +3 more
doaj +4 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 +6 more
doaj +1 more source

Yoghurt Fortified with Cooked Rice as an Especial Function Food [PDF]

Journal of Food and Dairy Sciences, 2016
The objective of this study was to apply rice as a partial milk substitute to produce low protein yoghurt-like suitable for children suffered from some diseases such as inborn errors of protein metabolism, renal failure and hepatic affection.Rice was ...
Hoida El-Shazly
doaj +1 more source

A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases

Therapeutic Advances in Rare Disease, 2022
Introduction: Glycogen storage diseases (GSDs) are rare inborn errors of carbohydrate metabolism typically with skeletal muscle and liver involvement. In those with skeletal muscle involvement, the majority display symptoms of exercise intolerance which ...
Claire Bordoli +4 more
doaj +1 more source

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

Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]

Archives of Ophthalmology, 1976
Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
openaire +2 more sources

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 +11 more
doaj +1 more source

Genetic variants for personalised management of very low carbohydrate ketogenic diets

BMJ Nutrition, Prevention & Health
The ketogenic diet (KD) is a low-carbohydrate, high-fat, adequate-protein diet proven to be effective for the reversal of obesity, metabolic syndrome and type 2 diabetes, and holding therapeutic potential for the prevention and treatment of other chronic
Lucia Aronica +3 more
doaj +1 more source

humans
3. good health
metabolism, inborn errors

child
glycogen storage disease
infant

infant, newborn
galactose
galactosemias