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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 childs brain will develop normally Causes 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 recessive way that is the abnormal gene has to be inherited from both parents If a couple have one child affected with Pku there is a 25 per cent risk that any further children will be affected Symptoms Babies affected by PKU are normal at birth Brain damage only begins when they start to take in phenylalanine with there feeds If they remain untreated they will grow into severely retarded individuals with an IQ of less than 30 PKU babies might also suffer from fits and they tend to take no interest in to other people and actions around them Dangers Phenylketonuria is dangerous in that it can
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