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Familial hyperargininaemia.

H G Terheggen, A Lowenthal, F Lavinha

    Archives of Disease in Childhood
    |January 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    This study details a third case of hyperargininaemia, a rare genetic disorder. The infant exhibited low arginase activity and high ammonia levels, leading to severe developmental issues despite a low-protein diet.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Hyperargininaemia is a rare autosomal recessive metabolic disorder.
    • It is caused by a deficiency in the enzyme arginase, which is crucial for urea synthesis.
    • This deficiency leads to elevated arginine levels and hyperammonemia.

    Purpose of the Study:

    • To document the clinical and biochemical findings of a third case of hyperargininaemia from birth.
    • To investigate the metabolic consequences of arginase deficiency in this patient.
    • To correlate biochemical findings with clinical outcomes.

    Main Methods:

    • Enzyme activity assays (arginase) in red blood cell hemolysates.
    • Measurement of serum and urine amino acid concentrations.

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  • Intravenous arginine loading tests.
  • Monitoring of blood ammonia and serum urea levels.

    • Main Results:

    • Low red blood cell arginase activity and elevated serum arginine from birth.
    • Consistent hyperammonemia and cystinuria throughout the study.
    • Normal or low-normal serum urea levels, suggesting alternative urea synthesis pathways.
    • Development of severe neurological deficits including mental retardation, athetosis, and spasticity.

    Conclusions:

    • The study confirms the severe clinical manifestations of hyperargininaemia, including neurological impairment.
    • Early diagnosis and intervention, such as dietary management, are critical.
    • The findings highlight the importance of arginase activity monitoring in infants with unexplained hyperammonemia and neurological symptoms.