Phenylketonuria

A detailed Summary of Phenylketonuria

Phenylketonuria - or PKU - is a rare inherited dieses. It is caused by the absence of an enzyme for dealing with the amino acid phenylalanine and leads to brain damage in the young child.

Screening at birth and the start of a special diet have meant that the child's brain will develop normally.

Phenylketonuria is one of a group of diseases that are known as the "in born errors of metabolism".

This means that the disease , which is present from birth, is one where the body is unable to handle some particular chemical constituent.

In phenylketonuria, this chemical is phenylalanine hydroxlase acts on this amino acid to turn it into another animo acid called tyrosine.

Because of the deficiency of phenylalanine hydroxylase, high levels of phenylalanine accumulate in the blood as none of it can pass into the next stage in the processing by the cells.

The high level of phenylalanine causes brain damage in the developing brain, which is highly sensitive at this stage.

If the phenylalanine rises the child is most likely to have blue eyes blond to white hair and pale skin and serious brain damage.

PKU is one of 50 known inborn errors in the handling of animo acids and is inherited in a recess

Babies affected by PKU are normal at birth .

Children are also permitted special brands of breads, flours, biscuits and pastas.

All babies are screened at or around the fifth day of their life with a simple heel prick test (Guthrie test).

All protein is avoided, including human and cows milk, since phenylalanine is a common constituent of the animo acid protein in both animal and vegetable foods.

The same applies to the brothers and sisters of affected people.

Children are given a special feed that is usally made from beef serum and is low in phenylalanine.

Some babies, who have a disease and can not tolerate normal levels of phenylalanine, have to remain on a special diet.

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Approximate Word count = 930
Approximate Pages = 4 (250 words per page double spaced)

Category: Miscellaneous

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Phenylketonuria

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