Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

GoldBamboo

... Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the blood. (Amino acids are the building blocks of proteins.) If PKU is not treated, excess phenylalanine can cause mental retardation and other serious health problems.

Phenylketonuria is a subtype of hyperphenylalaninemia.

The signs and symptoms of this disorder vary from mild to very severe. The most severe form of the disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent mental retardation and behavioral problems. Seizures, delayed development, and movement disorders are also common. Many children have a musty or "mouse-like" odor as a side effect of too much phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members, because phenylalanine is important for skin pigmentation. Children with the disorder are also likely to have skin disorders such as eczema.

Less severe forms of PKU (sometimes called moderate or mild PKU) have a smaller risk of brain damage. People with very mild cases may not require treatment with a special diet.

Babies born to mothers with high levels of phenylalanine have a high risk of mental retardation because they are exposed to very high levels of phenylalanine before birth. These infants may also grow more slowly than other children and may have heart defects or other heart problems, small head size (microcephaly), and behavioral problems. Affected women with uncontrolled phenylalanine levels also have an increased risk of pregnancy loss. ...

Genetics Home Reference - more...

Phenylketonuria [PKU] is a human genetic disorder (though it is possible to ...
Wikipedia - [full article]

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Phenylketonuria Symptoms

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Signs and symptoms
... Newborns with PKU don''t show any outward indication of this underlying genetic defect. Without treatment, though, these babies typically develop signs and symptoms of PKU within a few months. Signs a...
Source: MayoClinic

Causes
... PKU is caused by a mutation in a single gene. In normal circumstances, this gene contains the instructions for making phenylalanine hydroxylase (PAH) — an enzyme necessary for processing the ami...
Source: MayoClinic

Phenylketonuria Prevention

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Prevention
... Women with PKU can prevent their children from developing serious birth defects by sticking to — or returning to — a low-phenylalanine diet during pregnancy. Even women with mild cases of ...
Source: MayoClinic

Phenylketonuria Treatment

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Complications
... Untreated PKU leads to irreversible brain damage and marked mental retardation within the first few months of life. Older children with untreated PKU may also develop behavioral problems and seizures....
Source: MayoClinic

Treatment
... The main treatment for PKU is a rigorous, regimented diet with very limited levels of phenylalanine. This special diet can prevent mental retardation if it''s started just after birth. Doctors formerl...
Source: MayoClinic

Phenylketonuria Support

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Coping skills
... If you have a child with PKU, it can be difficult to explain why he or she can''t eat "normal" foods. Worse yet, mealtimes and snack times can be a battle. Here are some tips for avoiding food fights ...
Source: MayoClinic

Phenylketonuria Other

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Aspartame
... Over the past three decades, questions have been asked about the safety of the artificial sweetener aspartame, specifically, whether aspartame is a neurotoxin. A neurotoxin is a substance that adverse...
Source: National Institute of Neurological Disorders and Stroke

Hyperphenylalaninemia
... Hyperphenylalaninemia is a disorder characterized by increased amounts of the amino acid phenylalanine in the bloodstream. (Amino acids are the building blocks of proteins.) Excess phenylalanine is to...
Source: Genetics Home Reference

   

Phenylketonuria Articles

  • Aspartame
    ... Over the past three decades, questions have been asked about the safety of the artificial sweetener aspartame, specifically, whether aspartame is a neurotoxin. A neurotoxin is a substance that adverse...
  • Hyperphenylalaninemia
    ... Hyperphenylalaninemia is a disorder characterized by increased amounts of the amino acid phenylalanine in the bloodstream. (Amino acids are the building blocks of proteins.) Excess phenylalanine is to...
  • Phenylketonuria
    ... Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the blood. (Amino acids are the building blocks of prote...
  • Tetrahydrobiopterin deficiency
    ... Tetrahydrobiopterin (BH4) deficiency, also known as hyperphenylalaninemia caused by a defect in biopterin metabolism, is a rare inherited disorder that increases the amount of the amino acid phenylala...

Resources

  • Aspartame (National Institute of Neurological Disorders and Stroke)
  • Aspartame (National Institute of Neurological Diseases and Stroke)