Phenylketonuria

PHENYLKETONURIA
Phenylketonuria is an inborn error of metabolism where the body lacks a specific enzyme so that it cannot deal with the amino acid, phenylalanine.
This amino acid is one of the building blocks of many proteins. The disease is genetically determined and its incidence is about one in 15,000.
The great problem is that, if there is a delay in diagnosis, the child suffers brain damage and becomes mentally retarded.
The Guthrie test involves a simple test on a blood sample taken from the infant by pricking the heel. This is usually done at the hospital before the child leaves or at the Baby Health Centre. If the diagnosis is made early, phenylalanine can be excluded from the diet and these children may then be intellectually normal. "
As well as a blood test, a special urine test has been devised. In October 1978, the millionth baby was urine tested in NSW.
This screening produced a positive diagnosis in 120 children. The Medical Journal of Australia reported: "The great majority of these are now intellectually normal and the cost benefit of this preventive measure has been enormous, in terms of economic considerations and personal and family handicap and hardship. The cost of a Guthrie test is 85 cents, while it costs about $12,500 a year to institutionalise a retarded child."
Other rare disorders of amino-acid metabolism are now also included in the screening and blood is checked for evidence of poor thyroid gland function.
Cretinism, which usually results in mental retardation, is due to failure of the thyroid gland to function normally during foetal and early infant life. It can be prevented by giving thryoxine, the active hormone of this gland.
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