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Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.

NIH: National Institute of Child Health and Human Development

Symptoms of Phenylketonuria

The following features are indicative of Phenylketonuria:
  • intellectual disability
  • delayed development
  • behavioral problems
  • emotional problems
  • social problems
  • psychiatric disorders
  • neurological problems
  • hyperactivity
  • poor bone strength
  • skin rashes
  • musty odor
  • fair skin
  • blue eyes
  • microcephaly
It is possible that Phenylketonuria shows no physical symptoms and still be present in a patient.

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Common Causes of Phenylketonuria

The following are the most common causes of Phenylketonuria:
  • genetic mutations

Risk Factors for Phenylketonuria

The following factors may increase the likelihood of Phenylketonuria:
  • having two parents with a defective phenylketonuria gene
  • African-Americans

Prevention of Phenylketonuria

No, it is not possible to prevent Phenylketonuria.
  • genetic factors

Occurrence of Phenylketonuria

Number of Cases

The following are the number of Phenylketonuria cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Phenylketonuria most commonly occurs in the following age group:
  • Less than 1 year old

Common Gender

Phenylketonuria can occur in any gender.

Lab Tests and Procedures for Diagnosis of Phenylketonuria

The following lab tests and procedures are used to detect Phenylketonuria:
  • Blood tests: To identify cases of phenylketonuria
  • Phenylketonuria (PKU) test: To confirm presence of phenylketonuria

Doctor for Diagnosis of Phenylketonuria

Patients should visit the following specialists if they have symptoms of Phenylketonuria:
  • Pediatrician
  • Medical genetics specialist

Complications of Phenylketonuria if untreated

Yes, Phenylketonuria causes complications if it is not treated. Below is the list of complications and problems that may arise if Phenylketonuria is left untreated:
  • irreversible brain damage
  • intellectual disability
  • neurological problems
  • microcephaly
  • behavioral problems
  • emotional problems
  • social problems
  • health and developmental problems

Self-care for Phenylketonuria

The following self-care actions or lifestyle changes may help in the treatment or management of Phenylketonuria:
  • Buy low-protein products: To prevent phenylketonuria symptoms
  • Low-phenylalanine diet: To prevent phenylketonuria symptoms

Alternative Medicine for Treatment of Phenylketonuria

The following alternate medicine and therapies are known to help in the treatment or management of Phenylketonuria:
  • Consuming neutral amino acid supplements: Helps blocking absorption of phenylalanine

Patient Support for Treatment of Phenylketonuria

The following actions may help Phenylketonuria patients:
  • Online support groups: Talking with others who have mastered similar challenges can be very helpful
  • Registered dietitian: Helps to devise delicious low-phenylalanine dinners
  • Parents support: Encourage children with phenylketonuria to focus on sports, music or favorite hobbies

Time for Treatment of Phenylketonuria

While time-period of treatment for each patient may vary, below is the typical time-period for Phenylketonuria to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Phenylketonuria.

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