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Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Def... |
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fold increase in the chance of children inheriting genetic disorders like phenylketonuria a metabolic condition which can cause mental retardation and thalassaemia a blood disorder She said such problems were not restricted to Pakistanis in Birmingham and that marrying a first cousin was not in itself a problem but it raised issues which needed to be addressed
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MSS for detection of Down s syndrome and neural tube defects Embryonic and Newborn screening for phenylketonuria PKU hypothyroidism cystic fibrosis and metabolic disorders Human Idiogram In terms of maternal paternal family history some ethnic backgrounds have been shown to have disease associated genetic variants though most common genetic diseases are
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live long enough to reproduce A disorder of this type is referred to as a genetic lethal All new cases are due to new mutations AUTOSOMAL RECESSIVE INHERITANCE AR Examples of AR traits are albinism sickle cell disease galactosemia and phenylketonuria PKU The last three disorders are tested for in the new born
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Typically PKU is treated with a special diet that limits the amount of phe eaten Foods high in protein like milk eggs meats fish cheese and other high protein
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