Phenylketonuria

From Health Encyclopedia

Contents 1 Used for 2 See for 3 Broader Terms 4 Related Terms 5 Scope Note 6 Facts (generated by robot; please edit if you find it inaccurate)

Used for

phenylpyruvic oligophrenia

See for

PKU

Broader Terms

inborn aminoacid metabolism disorder, mental retardation

Related Terms

autosomal recessive trait

Scope Note

group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylaline hydroxylase or less frequently by reduced activity of dihydropteridine reductase.

Facts (generated by robot; please edit if you find it inaccurate)

• Phenylketonuria is inherited in an autosomal recessive manner, as are lesser degrees of phenylalanine hydroxylase deficiency.
• What is going on in the body? Phenylketonuria is caused by an enzyme defect in the liver.
• Phenylketonuria is treated with a special diet that is low in phenyalanine.
• edu) Phenylketonuria is an autosomal recessive Phenylketonuria is a genetic disorder that was first discovered in 1934 by Dr.
• Phenylketonuria is a type of birth defect a child inherits from both parents, who pass along the abnormal gene.

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