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Hyperargininemia

S D Cederbaum, K N Shaw, M Valente

    The Journal of Pediatrics
    |April 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Arginase deficiency, an autosomal recessive condition, causes severe psychomotor retardation and spasticity in children. This genetic disorder impairs arginine metabolism, leading to neurological symptoms.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Neurology

    Background:

    • Arginase deficiency is a rare metabolic disorder affecting the urea cycle.
    • It leads to hyperargininemia and associated neurological complications.

    Observation:

    • A young boy presented with progressive psychomotor retardation, spasticity, and growth arrest.
    • Elevated plasma arginine levels were observed, particularly after protein intake.
    • Significantly reduced red blood cell arginase activity was noted in the patient and carriers.

    Findings:

    • The patient exhibited markedly deficient red blood cell arginase activity (<1% of normal).
    • Enzyme activity was also reduced by approximately 50% in parents and siblings, suggesting autosomal recessive inheritance.
    • A protein-rich meal induced a sharp rise in plasma arginine and transient dibasic aminoaciduria, without hyperammonemia.

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    Implications:

    • This case confirms arginase deficiency as the cause of the observed clinical syndrome.
    • Early diagnosis and management are crucial for mitigating neurological damage.
    • Understanding the genetic basis aids in carrier screening and genetic counseling.