What comes to mind when you here about PKU?
for most of you its a test that your child gets after they are born and you go on your marry way with out giving it a second thought .
But for those of us that have come to learn that our child(ren) have been found to have this Metabolic disorder which is classified by the Social Security admin as a legit disability because of the food restraints that is placed up on a him or her.
First of all you can't see PKU so the child looks normal.That is PKU's mask.
What is PKU?
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Amino acids are the building blocks for body proteins. 'Essential' amino acids can only be obtained from the food we eat as our body does not normally produce them. In 'classic PKU', the enzyme that breaks down phenylalanine phenylalanine hydroxylase, is completely or nearly completely deficient. This enzyme normally converts phenylalanine to another amino acid, tyrosine. Without this enzyme, phenylalanine and its' breakdown chemicals from other enzyme routes, accumulate in the blood and body tissues. Although the term 'hyperphenylalaninemia' strictly means elevated blood phenylalanine, it is usually used to describe a group of disorders other than classic PKU.
These other disorders may be caused by a partial deficiency of the phenylalanine breakdown enzyme or the lack of another enzyme important to the processing of this amino acid.
A normal blood phenylalanine level is about 1 mg/dl. In classic PKU, levels may range from 6 to 80mg/dl, but are usually greater than 30mg/dl. Levels are somewhat less in the other disorders of hyperphenylalaninemia. Chronically high levels of phenylalanine and some of its breakdown products can cause significant brain problems. Classic PKU is the most common cause of high levels of phenylalanine in the blood and will be the primary focus of this topic sheet.
Classic PKU and the other causes of hyperphenylalaninemia affect about one of every 10,000 to 20,000 Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females.
PKU and the other causes of hyperphenylalaninemia are inherited in a recessive fashion. This means an affected person inherited two traits for the disorder (e.s., one from each parent). A person with one trait for the disorder, is called a 'carrier' for PKU. Carriers do not have symptoms of the disorder.
And any one can be a carrier and may not even know it.
Infants with PKU appear normal at birth.
Many have blue eyes and fairer hair and skin than other family members.
Currently, most symptoms of untreated PKU are avoided by newborn screening, early identification, and management.
The following describes untreated PKU symptoms-currently a rarity: About 50% of untreated infants have early symptoms, such as vomiting, irritability, an eczema-like rash, and a mousy odor to the urine.
Some may also have subtle signs of nervous system function problems, such as increased muscle tone, and more active muscle tendon reflexes. Later, severe brain problems occur, such as mental retardation and seizures. Other commonly noted features in untreated children include: microcephaly (small head), prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth.
In people living with PKU, high Phe levels can cause mood problems including depression.
It may be depression if you have many of the following symptoms
Overall sad mood, state of worry and/or feeling "empty"
Not wanting to do the activities you like, or enjoying them when you do.
Being hungry all the time, or not at all. Losing weight without meaning to, or gaining a lot of weight very fast.
Trouble sleeping or sleeping too much
Feeling tired all the time.
Body movements or actions you are not aware of
Feeling worthless or not having hope
Inability to focus or make decisions
Not wanting to live
(If you have thoughts about not wanting to live, contact a doctor right away)
High Phe may be causing you to feel this way. If you suspect depression, talk with a doctor or therapist
Every state now screens the blood phenylalanine level of all newborns at about 3 days of age. This test is one of several newborn screening tests performed before or soon after discharge from the hospital. Usually, a few drops of blood are obtained by a small prick on the heel, placed on a card, and then sent for measurement. If the screening test is abnormal, other tests are needed to confirm or exclude PKU. Newborn screening allows early identification and early implementation of treatment. The goal of PKU treatment is to maintain the blood level of phenylalanine between 2 and 10 mg/dl. Some phenylalanine is needed for normal growth. This requires a diet that has some phenylalanine but in much lower amounts than normal.
>>>>>High protein foods, such as: meat, fish, poultry, eggs, cheese, milk, dried beans, and peas are avoided<<<<<<.
Now take a look at all processed foods.
This includes some artificial sweeteners as well..Hence the reason for the warning labels on artificially flavored items.
>>Instead, measured amounts of cereals, starches, fruits, and vegetables, along with a milk substitute are usually recommended<<<<
Phenylalanine free formulas are available for all age groups. In some clinics, a phenylalanine 'challenge' may be suggested to evaluate whether or not the child continues to require a low phenylalanine diet. This test identifies those few persons with a transient or 'variant' form of the disorder. However, most authorities currently recommend lifelong dietary restriction of phenylalanine for individuals with classic PKU, in order to promote maximal development and cognitive abilities
Today, a child who has PKU can grow up happy and healthy. But it was not that long ago that a diagnosis of PKU meant a life of severe mental retardation and behavior problems.
By keeping your child on a careful treatment program of Phe ( phenylalanine) control, you can protect his or her brain, and avoid the terrible outcomes of uncontrolled PKU.
We as parents also have to weigh and measure the foods , prepare menus, make special accommodations for Birthday parties and get- to-gathers also there foods can get expensive fast and HUD doesn't recognize there diet as such and "Medical Condition" and there special foods can get expensive fast.
The state provides Phenex-1 and 2 for all PKU patients. this can not be bought over the counter and is strictly controlled substance.
Our Son was diagnosed with PKU and trust me..as Any one with a special needs child knows...No one can know the Challenges , trials, worries and a great deal of other things that can come our way.. am lad we live in the US as imperfect as it is..at least our son has the chance to be some what normal.
and he just may graduate from a university as well :)