Phenylketonuria (PKU)


What is phenylketonuria (PKU)?

Phenylketonuria, abbreviated as PKU is an inherited disorder that involves increased levels of the amino acid phenylalanine in the blood. Amino acids are the building blocks for protein in your body. Phenylalanine is an amino acid that is taken in through the diet. Phenylalanine can also be found in some artificial sweeteners such as aspartame (commonly found in diet soda products).

PKU is characterized by the absence of an enzyme that processes phenylalanine. Therefore, without the proper breakdown of phenylalanine, this essential amino acid builds to toxic levels in the body. As phenylalanine accumulates, damage to brain tissue can occur and lead to severe intellectual disabilities.

At CompreCare, we provide a variety of specialty therapies for phenylketonuria. Please feel free to contact us at 1-888-644-8326 or email us at info@comprecarehealth.com to learn how we can help you.

What are the complications of phenylketonuria (PKU)?

In undiagnosed infants, PKU can lead to severe mental retardation and other neurological symptoms such as seizure disorders, aggressive or hyperactive behavior and psychiatric conditions. Diagnosis and prevention with a proper diet and medications are important to prevent such complications.

What are the signs and symptoms of phenylketonuria?

Children with PKU may appear normal at birth. Left untreated, symptoms may not manifest until several months of age.

Symptoms in infants may include:
  • Weakness
  • Problems feeding
  • Nausea and vomiting
  • Irritability
  • Red skin rash with small pimple-like spots
  • Musty body odor
Symptoms due to complications of PKU:
  • Developmental retardation (typically seen with an IQ less than 50)
  • Fairer complexion and lighter hair than what is seen in other family members (due to a interference with melanin, the chemical responsible for pigmentation in the body)
  • Neurological symptoms such as seizures
  • Females with PKU may have problems with fertility
How is phenylketonuria diagnosed?

The United States currently requires routine neonatal screening for PKU. Neonatal screening involves a drop of blood taken from the baby’s heel in order to test for increased levels of phenylalanine. Prenatal screening, or a screening which is performed prior to birth, is also available for PKU. Genetic testing can also reveal if a child is carrying a defective gene that causes PKU. Presently, it is unlikely an infant will go undiagnosed with the use of these preventive tests.

How is phenylketonuria treated?

Once diagnosed, it is critical to prevent accumulation of phenylalanine. A crucial treatment involved is through a restricted and monitored diet limited in phenylalanine. Treatment must be started as soon as diagnosis is certain (before 3 months of age). Studies have also shown that a phenylalanine-restricted diet can prevent intellectual impairments and preserve a normal IQ. Foods that are high in protein such as meat, milk, cheese and fish cannot be consumed. However, a diet that is too low in phenylalanine can lead to vitamin deficiencies. Thus, it is important to maintain phenylalanine levels near a normal range but not too low.

Currently, there is one medication that can be used to treat PKU. Kuvan (saprooterin hydrochloride) may be used to reduce phenylalanine levels in patients with high levels due to tetrahydrobiopterin (BH4) responsive PKU. BH4 is a cofactor of the enzyme that breaks down phenylalanine. Kuvan is a formulation of BH4 and acts to stimulate the natural enzyme that breaks down phenylalanine into another amino acid (tyrosine). This medication can’t be used for all PKU patients but can be very helpful in combination with a phenylalanine-restricted diet.

References:

https://ghr.nlm.nih.gov/condition/phenylketonuria
https://rarediseases.org/rare-diseases/phenylketonuria/
https://www.acmg.net/docs/ACMG_PAHPKU_Guidelines_GIM_Feb2014.pdf

How to place an order?

CompreCare can accept electronic prescriptions as well as original prescriptions through the mail. Faxed prescriptions must come from your physician’s office only. CompreCare will verify all new controlled substance prescriptions with your physician’s office for validity.

We look forward to servicing all of your prescription medication needs in a fast and friendly way! If you have any questions, please do not hesitate to call us at 1-888-644-8326.

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