Results 51 to 60 of about 3,517 (179)

Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis [PDF]

, 2002
Background Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48).
Morriss Michael C, Moore Warren H, Baker Susan S, Taylor William, Reid Barbara, Belmont John W, Podrebarac Susan M, Glass Nancy, Schwartz I David   +8 more
core   +1 more source

Beyond Malabsorption: The Need for Symptom‐Based Assessment in Suspected Lactose Intolerance. Lessons From a Test‐Specific Symptom Assessment

Neurogastroenterology &Motility, EarlyView.
Breath test–proven malabsorption does not reliably predict symptoms. Many patients without malabsorption still develop significant symptoms. Symptoms after lactose ingestion are linked to fructose sensitivity and functional GI disorders. Validated, test‐specific symptom assessment is required to identify patients who may benefit from treatment ...
Johann Hammer, Heinz F. Hammer
wiley   +1 more source

The Complex Relation of Branched‐Chain Amino Acids and Inflammation in the Obesity and Diabetes Context

Obesity Reviews, EarlyView.
ABSTRACT In a scenario with increasing cases of obesity and diabetes worldwide, branched‐chain amino acids (BCAA) metabolism has become an important factor in the understanding of these pathologies. More recently, its chronic high plasma levels have been postulated, alongside glucose, inflammatory factors, and other molecules, as an important ...
Bernardo Starling‐Soares, Monique Macedo Coelho, Bruna Guerra Campolina, Camila Kümmel Duarte, Tatiani Uceli Maioli   +4 more
wiley   +1 more source

Hereditary Fructose Intolerance

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1983
Hereditary fructose intolerance is the result of a congenital deficiency in fructose-1-phosphate aldolase and is transmitted by an autosomal recessive gene (1).
VISCOLI, CLAUDIO, Ferrea G, Agnese G, Bertorello E.   +3 more
openaire   +4 more sources

Misconceptions about fructose-containing sugars and their role in the obesity epidemic. [PDF]

, 2014
A causal role of fructose intake in the aetiology of the global obesity epidemic has been proposed in recent years. This proposition, however, rests on controversial interpretations of two distinct lines of research.
Brouns, F.J., Tappy, L., van Buul, V.J.
core   +3 more sources

Differential Pathophysiological Drivers of Susceptibility to Type 2 Diabetes and Metabolic Dysfunction–Associated Steatotic Liver Disease: Ethnic Differences in Insulin Dynamics, Whole‐Body Fat Metabolism, and Organ‐Specific Lipid Deposition

Obesity Reviews, EarlyView.
ABSTRACT Introduction This narrative review explores the epidemiological evidence and potential underlying pathophysiological defects underlying the disproportionately greater risk of Type 2 diabetes (T2D) and cardiometabolic disease in people of South Asian and African Caribbean ancestry compared with White Europeans.
Daniel J. Cuthbertson, Martin Whyte, Alex E. Henney, Uazman Alam, Louise Goff, Barbara A. Fielding, A. Margot Umpleby   +6 more
wiley   +1 more source

An alternative allergen risk management approach [PDF]

, 2016
Protein components in food can trigger immune-mediated response in susceptible individuals. International law requires risk assessment to be undertaken by competent individuals to minimize food safety risk to consumers.
Manning, Louise, Soon, Jan Mei
core   +2 more sources

Prediabetic cardiomyopathy is attenuated by hypothalamic PVN oxytocin neuron activation

The Journal of Physiology, EarlyView.
Abstract figure legend A long‐term high‐fat, high‐fructose diet induces prediabetes with insulin resistance, hyperinsulinaemia, elevated triglycerides and metabolic‐associated steatotic liver disease (MASLD) in male rats. Animals developed prediabetic cardiomyopathy characterized by diastolic dysfunction, interstitial fibrosis and tachycardia ...
Anna Nilsson, Joan Escobar, Kira Kuraoka, Ian Venter, Cielo A. Carnate, Matthew W. Kay, David Mendelowitz, Kathryn J. Schunke   +7 more
wiley   +1 more source

HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

Zdravniški Vestnik, 2002
Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose.
Jernej Brecelj, Gordana Logar-Car, Henrik Peče   +2 more
doaj  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source