Phenylketonuria – causes, side effects and treatments at NaturalPedia.com

Tuesday, June 05, 2018 by

Phenylketonuria, also called PKU, is a genetic disorder that increases the levels of phenylalanine in the blood.

Phenylalanine is an amino acid that’s a building block of proteins. Obtained through the diet, phenylalanine can be found in all proteins and in some artificial sweeteners.

If a patient with phenylketonuria doesn’t receive immediate medical treatment, the phenylalanine in their body can exceed healthy levels. Unhealthy levels of phenylalanine can result in intellectual disability and other serious health concerns.

The side effects and symptoms of PKU can vary from mild to severe:

  • Classic PKU is the most severe form of the disorder. Infants with classic PKU may seem normal until they are several months old. Without treatment, infants with classic PKU can develop a permanent intellectual disability.
  • Variant PKU and non-PKU hyperphenylalaninemia refer to the less severe forms of the condition. Infants with variant PKU have a smaller chance of suffering from brain damage.

Known side effects of phenylketonuria

If phenylketonuria isn’t diagnosed at birth and treatment isn’t started immediately, the disorder can cause irreversible brain damage and intellectual disabilities within the first few months.

Meanwhile, older children with PUK can exhibit behavior problems and have seizures.

If a patient with classic phenylketonuria doesn’t receive immediate medical treatment, they may experience the following side effects:

  • Breath, skin, or urine with a musty odor
  • Hyperactivity
  • Seizures
  • Skin conditions (e.g., eczema)
  • Stunted growth
  • Tremors/trembling and shaking

Risk factors for phenylketonuria may include:

  • Family history — Having both parents with a defective gene that causes the disorder.
  • Race — Since the gene defect that causes PKU varies by ethnic groups, the condition is uncommon among African-Americans compared to other ethnic groups.

Body systems harmed by phenylketonuria

Untreated phenylketonuria may cause various complications in infants, children, and adults such as:

  • Behavioral or psychiatric issues (e.g. hyperactivity with autistic behaviors)
  • Developmental delays
  • Lighter skin and eyes due to abnormal levels of melanin
  • Permanent intellectual disabilities

If pregnant mothers with PKU have high blood phenylalanine levels during pregnancy, they may experience a fetal birth defect or miscarriage.

Food items or nutrients that may prevent phenylketonuria

A strict diet with little to no phenylalanine is the main treatment for phenylketonuria.

Infants with PKU can be breastfed. They may also need to ingest a special formula called Lofenalac.

To prevent PKU or manage its side effects, patients with the disorder must strictly limit their intake of foods containing phenylalanine like:

  • Beans
  • Beef
  • Cheese
  • Chicken
  • Eggs
  • Fish
  • Milk
  • Nuts
  • Pork
  • Soybeans

Treatments, management plans for phenylketonuria

Patients with phenylketonuria can ease symptoms caused by the condition by following a special diet.

To avoid the consumption of phenylalanine, children with PKU can consume low-protein, PKU-friendly food products from specialty health stores. Individuals with PKU must follow dietary restrictions and consume PKU formula their whole life to manage their symptoms.

Since PKU severity may vary per person, a patient must consult a healthcare professional to determine a suitable PKU-friendly diet. It might help to monitor phenylalanine levels by recording the amount of phenylalanine in the food they consume daily.

Where to learn more

Summary

Phenylketonuria, also called PKU, is a genetic disorder that increases the levels of phenylalanine in the blood.

If a patient with classic phenylketonuria doesn’t receive immediate medical treatment, they may experience side effects like hyperactivity, seizures, and tremors.

Untreated phenylketonuria may cause complications such as behavioral or psychiatric issues, developmental delays, and permanent intellectual disabilities.

To prevent PKU or manage its side effects, patients with the disorder must strictly limit their intake of foods containing phenylalanine like beans, beef, cheese, and eggs.

Patients with phenylketonuria can ease symptoms caused by the condition by following a special diet.

Sources include:

GHR.NLM.NIH.gov

Healthline.com

Drugs.com

MedicalNewsToday.com

EatRight.org



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