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Arginase deficiency.

R Christopher1, V Rajivnath, K T Shetty

  • 1Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore.

Indian Journal of Pediatrics
|March 1, 1997
PubMed
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Arginase deficiency, a rare inherited urea cycle disorder, can cause hyperargininemia. This case highlights a 5-year-old boy with mild hyperammonemia and dibasic aminoaciduria due to this condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Urea cycle disorders (UCDs) are inherited metabolic conditions affecting nitrogen excretion.
  • Arginase deficiency (OMIM 207800) is a rare UCD characterized by hyperargininemia.

Observation:

  • A 5-year-old boy presented with neurological symptoms and metabolic derangements.
  • Clinical evaluation revealed mild hyperammonemia and elevated arginine levels.

Findings:

  • The patient exhibited significant dibasic aminoaciduria, indicating a defect in amino acid transport or metabolism.
  • Genetic analysis confirmed arginase deficiency as the underlying cause.

Implications:

  • This case underscores the importance of considering UCDs in pediatric patients with unexplained neurological and metabolic issues.

Related Experiment Videos

  • Early diagnosis and management of arginase deficiency are crucial for preventing severe complications.