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Carbohydrate-deficient transferrin (CDT, also known as desialotransferrin or asialotransferrin) is a laboratory test used to help detect heavy ethanol consumption. [1]
Inactivation of the hepatic fructokinase results in asymptomatic fructosuria. [citation needed] Hereditary fructose intolerance (HFI) results in poor feeding, failure to thrive, chronic liver disease and chronic kidney disease, and death. HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small ...
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. [4] In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated.
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
Inborn errors of carbohydrate metabolism; 0–9. ... Galactokinase deficiency; Galactose-1-phosphate uridylyltransferase deficiency; Galactosemia; Galactosemic cataract;
Ketoacidosis is most commonly the result of complete insulin deficiency in type 1 diabetes or late-stage type 2 diabetes. Ketone levels can be measured in blood, urine or breath and are generally between 0.5 and 3.0 millimolar (mM) in physiological ketosis, while ketoacidosis may cause blood concentrations greater than 10 mM.
A lack of essential micronutrients, such as vitamin D and magnesium, as well as a few others, may be behind 'hidden hunger' associated with type 2 diabetes, a new study suggests.
Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (), and weight loss when fed breast milk or regular infant formulas.