from The American Heritage® Dictionary of the English Language, 4th Edition
- 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.
from Wiktionary, Creative Commons Attribution/Share-Alike License
- n. A genetic metabolic disorder characterized by an inability to metabolize galactose properly
from WordNet 3.0 Copyright 2006 by Princeton University. All rights reserved.
- n. a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
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However, the rarity of galactosemia is a serious issue.
Some disorders, such as galactosemia, are initially screened on a blood spot with subsequent confirmation in red blood cells or plasma using quantitative techniques.
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.
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.
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.
Email: galactosemia. ureach.com www. galactosemia.com
These conditions include sickle cell anemia, beta thalassemia, phenylketonuria PKU, hypothyroidism,8 and galactosemia.
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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.
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.