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Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

Noboru Kuyama1,2, Shigeru Nagaki1,3, Akie Miyamoto1

  • 1Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

SAGE Open Medical Case Reports
|June 28, 2023
PubMed

Insights

Arginase deficiency, a rare genetic disorder, causes neurological issues and hyperammonemia crises. Early symptoms like parotid swelling can precede diagnosis, highlighting the need for awareness in neurological patient care.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Arginase deficiency is a rare autosomal recessive metabolic disorder.
  • It leads to progressive neurological impairment and episodic hyperammonemia.
  • Early diagnosis is often delayed due to non-specific symptoms.

Keywords:
Arginase deficiencyhyperammonemiahyperamylasemialiver cirrhosisparotid gland swelling

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