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]
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References in periodicals archive ?
According to the UK NSC, babies with galactosaemia usually exhibit, in the first days and weeks of life, feeding difficulties, vomiting, jaundice, failure to thrive, and liver and kidney disease due to their inability to convert galactose, a sugar present in milk, into glucose, the sugar used by the body.
Couple's agony after baby's sepsis death
Genetic basis of transferase deficient galactosaemia in Irland and the population history of the Irish Travellers.
Clinical, molecular, and genetic evaluation of galactosemia in Turkish children
The screening costs were calculated as the total savings from the single screen for classic galactosaemia and congenital hypothyroidism, respectively, versus the dual testing using the same Guthrie card and analysing equipment.
Newborn screening for classic galactosaemia and primary congenital hypothyroidism in the Nkangala district of Mpumalanga province, South Africa
Clouds still gathering over galactosaemia. Lancet, 344(8932), 1242-1243.
Galactosemia in infancy: diagnosis, management, and prognosis
Not included in this series are those cases where encephalopathy may be secondary to failure of other organs such as hepatorenal failure in tyrosinaemia type 1 and galactosaemia, adrenal failure in adrenoleukodystrophy (X-ALD) or hypoglycaemia in glycogen storage disease type 1.
Investigation of metabolic encephalopathy: encephalopathy may be a presenting sign in a wide range of medical conditions
Original studies on neonatal hormone problems are few, particularly from developing countries, and the article on galactosaemia and primary congenital hypothyroidism by Lebea and Pretorius contains a good-size sample of just over a thousand subjects and should raise interesting discussion, particularly on the merits of neonatal screening.
Autism update and more CPD!
Later, a serogenetics and biochemical laboratory was established to undertake serogenetic testing in populations for research purposes, then biochemical testing for diagnostic purposes (for conditions such as TSD and galactosaemia), and later DNA fingerprinting for cases of disputed paternity.
Human genetics in Johannesburg, South Africa: past, present and future
According to the current available published data, congenital hypothyroidism, (1) galactosaemia (2) and glutaric aciduria type 1 (3) are probably the top three treatable conditions.
When to consider an inborn error of metabolism: an approach to paediatric neurometabolic disorders
Galactosaemia may present with nonspecific clinical complications such as
CPD: SAJCH March 2008
For the 10-year-old is one of only 12 people in the UK who suffer from galactosaemia.
A Christmas Selection Box Would Kill Our Girl; Charlene's life depends on diet
cystic fibrosis and galactosaemia) and X-linked disorders (e.g.
Direct-to-consumer genetic testing: to test or not to test, that is the question
Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia. Pharmacol.
Antischistosomal and Hepatoprotective Activity of Morus alba Leaves Extract

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