Genetic disorders phenylketonuria

PKU Phenylketonuria what is it and how is it caused

•Autosomal recessive trait

•Mutation located on chromosome 12

•Mutation causes lack of enzyme phenylalanine hydroxylase

•Phenylaniline = amino acid

Through PKU what does lack of enzyme mean

•Lack of enzyme =  Accumulation of phenylalanine in tissues and brain

WHat are symptoms of PKU

•uild up of amino acid in tissues begins at birth, and can lead to:

•Nervous system damage

•Intellectual disability

•Loss of executive function

•Mental health symptoms

•Anxiety

•Depression

•Phobias

WHats the Phe

PKU

Because further pathway is blocked by lack of enzyme, melanin production is often affected

People with PKU are often very fair, with light skin, hair and eyes

HOw to find PKU

•Early diagnosis and strict diet management is vital.

•Test newborns for Phe in the blood (heel prick test) in the first 24 – 96 hours of birth

HOw to tell if you have Pku as a baby

•Normal range ~58 uM

•PKU babies have Phe above 1000uM

PKU and selective adaptions where is it normally in

•Heterozygous carriers are thought to be less likely to be susceptible to toxins produced by moulds.

Through genetic analysis , PKU was found in mouldy places and from poeple who ate mouldy food in wet environents

•Heterozygous women have less miscarriages. 

•Therefore, mutations maintained in populated.