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Related Experiment Videos

Prenatal diagnosis for arginase deficiency: a case study.

S Hewson1, J T R Clarke, S Cederbaum

  • 1Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. stacy.hewson@sickkids.ca

Journal of Inherited Metabolic Disease
|November 8, 2003
PubMed
Summary

Arginase deficiency, a rare urea cycle disorder, can be diagnosed prenatally. Testing arginase activity in fetal red blood cells offers a viable method for prenatal diagnosis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Arginase deficiency is a rare, autosomal recessive urea cycle disorder.
  • It presents with hyperammonaemia, hyperargininaemia, aminoaciduria, and neurological symptoms like spastic tetraplegia and seizures.

Observation:

  • A family presented with a daughter diagnosed with arginase deficiency at age 4 years 11 months, exhibiting acute encephalopathy.
  • The child's intellectual development remained normal, but spasticity emerged in her lower extremities.
  • Prenatal diagnosis was sought by the mother during a subsequent pregnancy.

Findings:

  • Prenatal testing for arginase deficiency was performed using cordocentesis to isolate fetal red blood cells.
  • Arginase activity assay in these red blood cells predicted an unaffected fetus.

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  • Postnatal enzyme analysis confirmed the newborn's unaffected status.

    • Implications:

    • Prenatal diagnosis of arginase deficiency using cord red blood cell arginase activity assay is feasible.
    • This method provides a crucial tool for early identification and management of the disorder.
    • Further research can validate this technique for broader clinical application.