PKU- Cell Storage Disorder!! By: Brianna Hopkins

What is PKU?? Alternative names: Alternative names: – Amino Acid Metabolism – Phenylketenuria 1 st Discovered by Archibald Garrod. 1 st Discovered by Archibald Garrod. Phenylalanine is an essential amino acid, that can not be synthesized but digested in the body. Phenylalanine is an essential amino acid, that can not be synthesized but digested in the body. Step 1: Phenylalanine hydroxylase reaction converts phenylalanine into another kind type of amino acid called Tyrosine. Step 1: Phenylalanine hydroxylase reaction converts phenylalanine into another kind type of amino acid called Tyrosine. Hydroxylase enzyme reaction needs a cofactor, the cofactor is called biopterin. Hydroxylase enzyme reaction needs a cofactor, the cofactor is called biopterin. Defects affecting the production of biopterin results in another form of PKU called Malignant PKU. Defects affecting the production of biopterin results in another form of PKU called Malignant PKU. Hydroxylases are also defected, resulting in deficient, Neurotransmitter synthesis and insignificant neurological symptoms. Hydroxylases are also defected, resulting in deficient, Neurotransmitter synthesis and insignificant neurological symptoms. PKU Is the most common of it’s Kind. PKU Is the most common of it’s Kind.

Who is Most Likely to receive the disorder? This Disorder Is Most Likely Found In New Born Babies This Disorder Is Most Likely Found In New Born Babies It occurs in people that lack the enzyme to metabolize phenylalanine It occurs in people that lack the enzyme to metabolize phenylalanine A higher percentage of Whites, and Native Americans get it then Blacks, Hispanics, and Asians. A higher percentage of Whites, and Native Americans get it then Blacks, Hispanics, and Asians. Found On Chromosome 12, PAH Gene Found On Chromosome 12, PAH Gene It is a Autosomal recessive Disease. Which Means that both copies in each of the parents carries a mutated gene. ( Signs often don’t show!) It is a Autosomal recessive Disease. Which Means that both copies in each of the parents carries a mutated gene. ( Signs often don’t show!) Can be tested for it by screening newborns for blood spots or blood test. Can be tested for it by screening newborns for blood spots or blood test.

SYMPTOMSSYMPTOMS Seizures Seizures Delayed development (Slower Language) Delayed development (Slower Language) Behavioral issues ( Anxiety) Behavioral issues ( Anxiety) Psychiatrical disorders Psychiatrical disorders Musty odor from phenylalanine in the body Musty odor from phenylalanine in the body Lighter skin and hair color indicates classic PKU Lighter skin and hair color indicates classic PKU RESULTS OF THE DISEASE Mental retardation Mental retardation Babies with small heads Babies with small heads Growth issues Growth issues Heart disease Heart disease Permanent intellectual disabillities Permanent intellectual disabillities Brain, nervous system damage Brain, nervous system damage

How Can This Disease be Treated? One found, in a persons system, the best thing to do is to start a PKU Diet, which deals with cutting out food that consist of protein. For example: Milk, Eggs, Peanut Butter, Cheese, Soy, E.T.C. One found, in a persons system, the best thing to do is to start a PKU Diet, which deals with cutting out food that consist of protein. For example: Milk, Eggs, Peanut Butter, Cheese, Soy, E.T.C. Less severe cases may not require treatment w/ PKU Diet. Less severe cases may not require treatment w/ PKU Diet. Also the medicine Sapropterin can help reduce phenylalanine in your blood. Also the medicine Sapropterin can help reduce phenylalanine in your blood. For Babies, Using baby formulas that are limited in phenylalanine content is effective. For Babies, Using baby formulas that are limited in phenylalanine content is effective. A way to prevent The disease from occurring is by starting a PKU diet when as early as possible during pregnancy. A way to prevent The disease from occurring is by starting a PKU diet when as early as possible during pregnancy.

SUPPORT GROUPS !! National PKU Alliance National PKU Alliance Unified to support metabloic disorders (USMD-PKU) Unified to support metabloic disorders (USMD-PKU) CHILDRENS PKU NETWORK CHILDRENS PKU NETWORK

INTERESTING FACTS This disease occurs in one of every 13,000 to 19,000 births Vomiting and diarrhea as a symptom, can cause people who have disease to lose weight. Vomiting and diarrhea as a symptom, can cause people who have disease to lose weight.

Works Cited !! Source 1: webmd.com/parenting.com Source 2: Medicine.jrank.org/pgs./2520 Source 3: Medicinenet.com/phenlketonuria