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Lysinuric protein intolerance.

O Simell, J Perheentupa, J Rapola

    The American Journal of Medicine
    |August 1, 1975
    PubMed
    Summary
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    Lysinuric protein intolerance (LPI) is a rare genetic disorder affecting amino acid transport, causing hyperammonemia and growth issues. Supplementing arginine and increasing protein intake improved patient growth and urea production.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Lysinuric protein intolerance (LPI) is an autosomal recessive disorder of diamino acid transport.
    • It is characterized by renal hyperdiaminoaciduria, impaired urea formation, and hyperammonemia after protein intake.

    Purpose of the Study:

    • To elucidate the pathophysiology of LPI.
    • To investigate the impact of diamino acid deficiency on urea cycle function.
    • To evaluate therapeutic interventions for LPI.

    Main Methods:

    • Clinical observation of 20 LPI patients.
    • Biochemical analysis of plasma and urine amino acid levels.
    • Oral diamino acid loading tests.
    • Liver biopsy analysis (electron and light microscopy).

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  • Assessment of urea production and response to ornithine supplementation.

    • Main Results:

    • Patients exhibited short stature, muscle weakness, osteoporosis, hepatomegaly, and hematological abnormalities.
    • Low plasma concentrations of lysine, arginine, and ornithine with increased renal clearances were observed.
    • Impaired intestinal absorption and hepatic transport of diamino acids were indicated.
    • Ornithine supplementation prevented hyperammonemia and normalized urea production.
    • Dietary supplementation with arginine and increased protein intake led to catch-up growth.

    Conclusions:

    • LPI is caused by defective intestinal absorption and increased renal loss of diamino acids, leading to hepatic ornithine deficiency.
    • This deficiency impairs the urea cycle, causing hyperammonemia and protein aversion.
    • The defect in hepatocyte transport distinguishes LPI from other hyperdibasicaminoacidurias.
    • Therapeutic strategies involving arginine supplementation and increased protein intake show promising results for growth and metabolic control.