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Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria.

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What is an aminoaciduria?

An aminoaciduria is the presence of amino acids in the urine.


What is primary aminoaciduria?

Aminoaciduria-- The abnormal presence of amino acids in the urine.Primary or overflow aminoaciduria results from deficiencies in the enzymes necessary to metabolize amino acids.


What is secondary aminoaciduria?

Aminoaciduria-- The abnormal presence of amino acids in the urine.Secondary or renal aminoaciduria occurs because of a congenital defect in the amino acid transport system in the tubules of the kidneys.


What are the types of aminoaciduria?

There are several types of aminoaciduria, including cystinuria, Hartnup disease, and Lowe syndrome. Cystinuria involves the excessive excretion of cystine in the urine, while Hartnup disease is characterized by the impaired absorption of amino acids. Lowe syndrome is a rare genetic disorder that affects various systems in the body, including the kidneys.


How is diagnosis of Hartnup disease confirmed?

a laboratory test of the urine which will contain an abnormally high amount of amino acids (aminoaciduria).


What is an abnormal result in amino acid screening tests?

The blood plasma amino acid pattern is abnormal in overflow aminoaciduria and is normal in renal aminoaciduria. The pattern is abnormal in the urine test, suggesting additional tests need to be done to determine which amino acids are involved.


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