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1. Homocystinuria
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Phenylketonuria

Phenylketonuria

Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. ...
Alternative names Return to top
PKU
Definition Return to top
Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. ...
Causes, incidence, and risk factors Return to top
Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected). The genetically determined abnormality in phenylketonuria is a missing enzyme called phenylalanine hydroxylase. ...
Because phenylalanine is involved indirectly in the production of melanin, the pigment responsible for skin and hair color, children with phenylketonuria often have lighter complexions than their unaffected siblings. ...
Update Date: 7/30/2002
DEFINITION:
Phenylketonuria (PKU) is a genetic disorder that is
characterized by an inability of the body to utilize the
essential amino acid, phenylalanine.


Approximate Word count = 1562
Approximate Pages = 6.2
(250 words per page double spaced)
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