(guh-LAK-toh- SEE-mee-uh) Buildup of galactose in the blood. Caused by lack of one of the enzymes needed to break down galactose into glucose.
a condition where the body is not able to process galactose (a sugar), which makes up half of the sugar (called lactose) found in milk. When galactose levels become high, body organs and the central nervous system can be damaged. In newborns, the condition is found when first breastfeeding and can cause jaundice and other problems.
an inherited (autosomal recessive) metabolic disorder, marked by the deficiency of the enzyme involved in the metabolism of the carbohydrate galactose; accumulation of galactose 1-phosphate can lead to hepatosplenomegaly with cirrhosis, cataracts, and mental retardation; treatment includes elimination of foods containing galactose (primarily milk and milk products)
a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly.
Newborns are screened for an absence of the enzyme Galactose-1-phosphate uridyltransferase (GALT) to convert galactose into glucose. Without diet management of limiting galactose and lactose from the diet, baby's will develop vomiting, diarrhea, jaundice, disturbances of liver function, severe brain damage, mental retardation, kidney damage, blindness and cataracts in neonates and death if untreated from severe dehydration, sepsis or liver failure. (Prevalence 1:75,000)
Inherited disease of infants in which milk cannot be digested. Milk should be eliminated from the infant's diet to prevent malnutrition, liver disease, kidney disease and mental retardation.
a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
a genetic disorder involving the breakdown of the carbohydrate galactose to glucose
a disease caused by the lack of the enzyme necessary for digesting galactose (a simple sugar).
a hereditary disorder in which milk becomes toxic as food.
A buildup of galactose in the blood. This is caused by lack of the enzymes needed to break down galactose into glucose.
A genetic disorder in which galactose cannot be converted into glucose.
An inherited metabolic disorder caused by a deficiency in the transferase enzyme. This deficiency disrupts the metabolism of galactose, causing mental retardation and other medical problems. Dietary restriction of galactose can reduce the severity of these problems.
enzyme deficiency disorder. The enzyme galactose-1-phosphate uridyl transferase metabolizes galactose in milk sugar. (More? Prenatal Diagnosis | Neonatal Screening | MedlinePlus - Galactosemia)
a disease characterized by the buildup of the sugar galactose in the bloodstream; the buildup occurs because the liver is unable to metabolize galactose. If present at birth and left untreated, this condition results in sever mental and growth retardation.
an inherited recessive disorder which is a disease tested for by newborn screening. Dietary treatment is available for this disorder.
an inherited metabolic disorder. With this condition, a form of sugar called galactose (found in milk products) builds up in the blood because the body cannot make the enzyme that would normally break galactose down. If not treated, galactosemia can cause poor weight gain, irritability, and convulsions, and, in the long term, learning disabilities and poor growth. Most states screen for galactosemia at birth with a simple blood test. If treatment is started early, symptoms and effects can be minimized.
an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar.