Phenylketonuria(PKU)
- Phenylketonuria is a monogenic inborn error of metabolism that is characterized by the presence of phenyl ketones in the urine.
- It has different causes but the underlying problem is the excess amount of phenylalanine in the blood (Hyperphenylalaninemia). This causes phenylalanine to accumulate in blood and body fluids. Eventually, it is metabolised to phenyl ketones that are excreted in the urine.
- Hyperphenylalaninemia can affect the development of the nervous system in early childhood and this can lead to neurological problems later in life
- There are 4 forms of PKU
- Classical PKU
- Maternal PKU
- Variant PKU
- Diet resistant PKU
Classical PKU
- This is caused by a mutation in the enzyme Phenylalanine Hydroxylase(PAH).
- Lack of PAH activity causes phenylalanine to accumulate in the body because it is the enzyme responsible for conversion of Phenylalanine to Tyrosine
Maternal PKU
- This is hyperphenylalaninemia of the newborn caused by untreated PKU of the mother(the
Phenylketonuria(PKU)
Classical PKU
Maternal PKU
Variant PKU
Diet resistant PKU
Tay-Sachs Disease
Hurler Syndrome
I-cell Disease
Alpha-1 antitrypsin deficiency
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