Galactosemia

Galactosemia
Definition
Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body.
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Galactosemia
Related Category: Pathology
(glk´´ts´m), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body.
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Galactosemia
Definition:
Galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, ...
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Galactosemia
Galactosemia - Nutritional Considerations (Inborn Errors of Metabolism)
Galactosemia Screen (Galactose-1-Phosphate Uridyltransferase)
Galactosylcereamidase Deficiency (Krabbe Disease)
Galactosylcerebrosidase Deficiency (Krabbe Disease) ...
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Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease, GALT deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the GALT deficiency is the most severe.
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galactosemia - This is an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar. It occurs in about one baby in every 60,000 to 80,000. Without treatment (avoidance of milk), galactosemia can be life threatening.
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galactosemia
A disease present at birth caused by a genetic lack of an enzyme needed to metabolize galactose into glucose. May result in mental retardation, cataracts and liver damage.
gall ...
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Congenital cataracts occur if the mother had rubella during the first three months of pregnancy, or if the infant has galactosemia (inherited inability to digest galactose [a type of milk sugar, resulting from lactose] properly).
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Sir Archibald Garrod was the first to attribute a disease to an enzyme defect, to what Garrod called an "inborn error of metabolism." Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosemia, ...
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Other factors which can potentiate jaundice in the newborn include: sepsis, biliary atresia, Rh incompatibility, galactosemia, cephalohematoma, polycythemia, G-6-P-D deficiency, and congenital rubella, syphilis, toxoplasmosis, ...
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These disorders include myotonic dystrophy, the most common form of muscular dystrophy in adults, and galactosemia, a rare disorder that involves elevated levels of the sugar galactose in the blood. 3
Iris color.
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