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Hydrogel Nanoparticle Harvesting of Plasma or Urine for Detecting Low Abundance Proteins
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Published on: August 7, 2014

Lysinuric protein intolerance.

J Perheentupa, O Simell

    Birth Defects Original Article Series
    |January 1, 1974
    PubMed
    Summary
    This summary is machine-generated.

    Lysinuric protein intolerance is a genetic disorder causing failure to thrive and protein aversion in infants. Treatment involves arginine supplementation to correct diamino acid transport defects.

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    Area of Science:

    • Genetics
    • Metabolic Disorders
    • Pediatrics

    Background:

    • Lysinuric protein intolerance (LPI) is an autosomal recessive disorder.
    • It presents in infancy with failure to thrive, vomiting, diarrhea, and later growth failure, weakness, osteopenia, and aversion to animal protein.
    • Neurological symptoms like mental retardation and stupor can occur.

    Purpose of the Study:

    • To elucidate the underlying defect in Lysinuric protein intolerance.
    • To identify effective treatment strategies for LPI.

    Main Methods:

    • Analysis of patient symptoms and metabolic profiles.
    • Investigation of amino acid transport mechanisms in affected tissues (intestine, liver, kidney).

    Main Results:

    • Patients exhibit marked lysinuria and hyperammonemia post-protein intake.
    • The fundamental defect is identified as impaired transport of diamino acids.

    Conclusions:

    • Lysinuric protein intolerance results from deficient diamino acid transport.
    • Supplementation with arginine is an effective treatment for LPI.