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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
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.
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.
- 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.