Download Phenylketonuria (PKU)

yes no Was this document useful for you?
   Thank you for your participation!

* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project

Document related concepts

Fetal origins hypothesis wikipedia, lookup

Designer baby wikipedia, lookup

Genetic code wikipedia, lookup

Nutriepigenomics wikipedia, lookup

Expanded genetic code wikipedia, lookup

Neuronal ceroid lipofuscinosis wikipedia, lookup

Point mutation wikipedia, lookup

Epigenetics of neurodegenerative diseases wikipedia, lookup

PKU is an autosomal
recessive trait
Both parents must be
carriers of the trait for
the child to show
If both parents are
carriers, the child has
a 25% chance of
having the disease
PKU is caused by a
mutation of a gene
on chromosome 12
This gene is
responsible for
coding for the
hydroxylase (PAH)
PAH is necessary for
turning the amino
acid phenylalanine
into the amino acid
In people with PKU,
this does not happen
and phenylalanine
builds up in the body
The phenylalanine
stored up in the
body causes
damage to the
central nervous
This can lead to
moderate to severe
mental retardation
If PKU is not detected
early, the symptoms
are severe and
These symptoms
include seizures,
vomiting, moderate to
severe mental
retardation, and light
If the disease is caught
early, symptoms may
never occur
PKU tends to be more common in
people of Turkish, Yemenite Jewish,
northern and eastern European, Italian,
and Chinese descent
PKU can be detected
at birth before there
are any symptoms
Hospitals routinely
screen newborns to
check if they have the
The test indicates
elevated levels of
phenylpyruvic acid in
the blood
Treatment for PKU
involves following a
specific diet
Foods with protein
phenylalanine so
cannot be eaten
The best foods for
people with PKU are
fruits and vegetables
There is a special
formula for people
with PKU
This formula contains
protein and other
vitamins and
minerals but no
This is the most
important part of the