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  • noun

Words related to galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent

References in periodicals archive ?
Our second case was diagnosed with galactosemia coexisting with IAHS due to Streptococcus pneumonia.
Washington, June 1 (ANI): Commonalities between flies and humans can help offer a valuable new model for galactosemia, a metabolic disease resulting from an inherited defect that prevents the proper metabolism of galactose, a sugar commonly found in dairy products, like milk, say scientists.
The have organized the papers into sections that focus in turn on: chemistry, biochemistry, and the formation and reactivity of endogenous toxins such as metabolic intermediates and reactive oxygen species, particularly those associated with excessive sugar, fat, meat, or alcohol consumption; the association of increased endogenous toxin levels with inborn errors of metabolism such as galactosemia, hyperlipidemia, porphyria, hemochromatosis, and related conditions; examples of endogenous toxins that appear to be associated with acquired diseases or animal disease models, including hepatic injury, asthma, rheumatism, colorectal cancer, reperfusion diseases, neurodegeneration, and aging; and nutritional and pharmacologic therapeutics that have been proposed for decreasing endogenous toxins.
Retinal capillaries: basement membrane thickening by galactosemia prevented with aldose reductase inhibitor.
Over the years, state programs added new conditions to the screening panels, including congenital hypothyroidism, hemoglobinopathies (including sickle cell disease), and galactosemia that have been part of most programs for several decades.
We are well aware that conditions such as PKU, congenital hypothyroidism, sickle cell disease, and galactosemia must be identified before symptoms become apparent in order to reduce morbidity or mortality.
For years newborn screening consisted of a combination test for PKU, galactosemia, hemoglobinopathies, and congenital hypothyroidism.
Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods.
Galactosemia can cause mental retardation if not treated with a diet free of a sugar called galactose, which is found in dairy products.
Metabolic syndromes associated with premature menopause include thalassemia, hemochromatosis and galactosemia.
An eight-year-old girl with Galactosemia, a genetic disorder that results in speech difficulties, muscle weakness, and intellectual disability, was staying in the hospice for a week.
The fact that carriers for various metabolic diseases such as early vascular disease in homocystinuria, hyperammonemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosemia, and so forth (Endres 1997), as well as for AAT deficiency (Feld 1989; Gourley et al.
Hereditary conditions like cystic fibrosis, Huntington's disease, galactosemia, hemophilia, just to name a few, already cause tremendous anguish for patients and families who are so afflicted.
The 1970s saw a number of states add to universal PKU screening programs tests for other metabolic disorders including congenital hypothyroidism, histidinemia, homocystinuria, galactosemia, maple syrup urine disease, and tyrosinemia, as well as hemoglobinopathies, notably sickle cell disease.
Whenever a positive PKU or galactosemia test is discovered, the mother must be immediately alerted not to breast-feed or give milk to her newborn.
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