PKU
(Phenylketonuria)
WHAT IS PKU?
PKU is an abbreviation for Phenylketonuria. Children born with this rare genetic disorder cannot metabolize a part of protein in food called Phenylalanine (PHE). Without treatment, PHE levels are markedly increased in the blood. As a result, brain development and function are seriously impaired. If untreated, PKU children may appear normal for their first few months of life, but will usually become mentally retarded before they are one year old.
Today,
hospitals test all newborn babies for elevated levels of PHE. When a newborn is
diagnosed with PKU, the baby is immediately placed on a low PHE diet, and
treated for PKU.
PKU IS A
TREATABLE DISEASE
The
treatment of PKU is dietary. Much research has been conducted over the years
and experts agree that a PKU patient who adheres to a strict low PHE diet
for life should develop normally. This diet includes a special low PHE
formula, low protein foods, fruits and most vegetables. Food items to be
avoided include meat, fish, poultry, dairy products, bakery goods and eggs
because they contain high levels of PHE. While adherence to this diet is
critical for normal developmental growth, it is very challenging for the patient
and parents for a number of reasons:
· The low PHE formula requires specific daily intake and is important.
· Blood tests are necessary to monitor blood levels of PHE.
· Costs of purchasing low protein foods are significant
· As PKU children grow older, peer pressure to fit in and not be different increases, and children face emotional challenges with their special diet and condition.
· Constant calculating of PHE levels in foods is challenging and can be tedious.
MATERNAL PKU
The
understanding of PKU is an on-going process. This fact is most evident with
Maternal PKU. Maternal PKU is a syndrome known to cause severe birth defects in
children born to mothers with PKU who are not maintaining safe PHE levels
through strict dietary controls during pregnancy. Offspring with the syndrome
may demonstrate or suffer growth retardation, microcephaly, congenital heart
disease and other serious anomalies. Intensive research and education programs
focused on Maternal PKU are attempting to better understand this serious
situation.