Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The varied presentation and clinical features of classical galactosaemia are illustrated by the case histories of seven babies born in Western Australia since January, 1962, and of two babies born in South Australia in whom diagnosis was made as a result of adding galactosaemia to the Guthrie screening programme in October, 1974. All were shown to have a severe deficiency of galactose-1-phosphate uridyl transferase in their red blood cells. We compare our findings with those in 10 galactosaemic babies born in Victoria over a similar period, and show that in both groups these were two main modes of onset: acute and insidious. Jaundice and Escherichia coli infection were prominent in the 13 babies with an acute onset of galactosaemia, while poor weight gain, intermittent vomiting and cataracts were features of the five babies with an insidious onset. An enlarged liver was usually found in both groups. We discuss the various approaches to neonatal screening of galactosaemia in the light of experience in Massachusetts and South Australia. The use of cord blood can be expected to lead to diagnosis before babies with acute onset become ill, while the use of blood collected at five days for the Guthrie test avoids the collection of another routine sample for a relatively rare disorder. The result of red cell transferase assays of parents and siblings of our patients are discussed in relation to their implication for genetic counselling. The relevance of antenatal diagnosis to the prevention of possible intrauterine damage to an affected fetus is pointed out.
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PMID:Galactosaemia: case for neonatal screening illustrated by recent Australian experience. 73 9

The effect of beta carotene on disease protection and humoral immunity in chickens was investigated in comparison with the effect of other lipid-soluble antioxidant vitamins, vitamin E and A, which are both proven immunoenhancers and contributors to disease protection. Beta carotene alone was not as effective as either vitamin in protecting chickens from Escherichia coli infection, nor did it significantly enhance humoral immunity. In combination with vitamin E, however, beta carotene significantly increased disease protection and reduced hepatomegaly caused by E. coli infection.
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PMID:Effect of beta carotene on disease protection and humoral immunity in chickens. 228 15