galactosaemia


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Related to galactosaemia: galactosemia, Classic Galactosemia

ga·lac·to·se·mi·a

(gă-lak'tō-sē'mē-ă)
An inborn error of galactose metabolism due to congenital deficiency of the enzyme galactosyl-1-phosphate uridyltransferase, resulting in tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria, which regress or disappear if galactose is removed from the diet.
Synonym(s): galactosaemia.
[galactose + G. haima, blood]

galactosaemia

A genetic disorder due to the absence of an enzyme necessary for the breakdown of milk sugar (galactose) to glucose. The accumulating galactose may cause diarrhoea, vomiting, cataracts, mental retardation, liver damage with jaundice and malnutrition. Infants fed on a galactose-free diet can grow up entirely normal.

galactosaemia

a rare INBORN ERROR OF METABOLISM in which the breast-fed human infant is literally poisoned by the mother's milk. The affected individuals are unable to metabolize the milk sugar GALACTOSE, which normally is converted to glucose ready for oxidation and the release of energy Instead, affected infants store the galactose in various tissues including the brain, resulting in severe malnutrition along with mental retardation.

Galactosaemia is due to blockage of the step galactose-1-phosphate to glucose-1-phosphate because the enzyme uridyltransferase is absent or inactive. The condition is controlled by an autosomal gene probably on chromosome 9, affected individuals being homozygous for the recessive alleles. The transferase enzyme can be detected in foetal cells from AMNIOCENTESIS before birth and, if newborn infants are given a special diet, development will be normal.

ga·lac·to·se·mi·a

(gă-lak'tō-sē'mē-ă) [MIM*230400]
An inborn error of galactose metabolism due to congenital deficiency; of tissue accumulation of galactose 1-phosphate; manifested by nutritional failure, hepatosplenomegaly with cirrhosis, cataracts, mental retardation, galactosuria, aminoaciduria, and albuminuria.
Synonym(s): galactosaemia.
[galactose + G. haima, blood]
References in periodicals archive ?
The laboratory investigations listed will detect or infer a diagnosis in the majority of IMDs presenting with encephalopathy that may occur in South Africa, but clinicians need to remain cognizant of the fact that many other IMDs such as galactosaemia require directed diagnostic testing and may be missed by these screening tests.
There are potentially treatable disorders where early intervention, as for galactosaemia and hypothyroidism, is imperative.
Unlike some developed countries, there is no routine newborn screening programme for galactosaemia in South Africa (SA), with the result that the correct diagnosis is made only after significant illness has developed.
5 mmol/l) do not affect the meter's readings, galactose, at the clinically relevant concentrations found in galactosaemia, is able to cause positive interference.
4) had found the Roche Accu-chek to give equimolar interference of galactose with glucose and therefore to risk gross overestimation of glucose in cases of galactosaemia.
However, permanent or transient elevation of blood galactose is found in galactosaemia, liver dysfunction or maturational delay of galactose transport or utilisation, (5) and then can indeed affect measurements and clinical judgement.