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  1. galactosemia love

Definitions

American Heritage® Dictionary of the English Language, Fourth Edition

  1. n. An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose. The disorder results in elevated levels of galactose in the blood and, if untreated, can lead to mental retardation and eye and liver abnormalities.

Wiktionary

  1. n. medicine A genetic metabolic disorder characterized by an inability to metabolize galactose properly

WordNet 3.0

  1. n. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

Examples

  • “However, the rarity of galactosemia is a serious issue.”

    Galactosemia: the Other Lactose Problem

  • “Some disorders, such as galactosemia, are initially screened on a blood spot with subsequent confirmation in red blood cells or plasma using quantitative techniques.”

    Metabolic Disease Lab

  • “The baby can not breastfeed: The child has a birth defect or inborn errors of metabolism such as galactosemia that makes breastfeeding difficult or impossible.”

    Spy Gum | Surveillance

  • “People who have a G6PD deficiency have the following symptoms: pale skin fatigued and tired rapid and shallow breathing abnormal/rapid heartbeat enlarged spleen yellowish tint to eyes galactosemia which is found in babies.”

    CreationWiki - Recent changes [en]

  • “In addition, the laboratory offers a specialist expertise in the diagnosis of lysosomal, galactosemia and fatty acid oxidation enzyme defects for which diseases the laboratory has a National and International reputation.”

    Laboratory Rotation

  • “Email: galactosemia. ureach.com www. galactosemia.com”

    Resources for Families

  • “These conditions include sickle cell anemia, beta thalassemia, phenylketonuria PKU, hypothyroidism,8 and galactosemia.”

    Simon & Schuster: Pregnancy, Childbirth, and the Newborn

  • “EpiPen exercise flatulence food food allergy food labeling food technology free from frozen desserts frozen yogurt fructose fructose intolerance functional foods galactosemia gas genetics”

    Adding Vitamin D to a Nondairy Diet

  • “Of the thirty-seven conditions for which Pathway tests for carrier status, I was positive for two: hemochromatosis, which I already knew about, and galactosemia, a rare inborn error of metabolism that is one of the conditions tested in newborn screening.”

    Simon & Schuster: The $1,000 Genome

  • “Babies born with galactosemia don't have the enzymes that are needed to break down the liver and if there is not enough produced then galactose will start to build up in the babies blood.”

    CreationWiki - Recent changes [en]

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