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

Author:

Kuyama Noboru12,Nagaki Shigeru13ORCID,Miyamoto Akie1,Etou Kaoru1,Maruyama Hiroshi14,Osawa Makiko1

Affiliation:

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

2. Kuyama Children’s Clinic, Chiba, Japan

3. Nagaki Children’s Clinic, Tokyo, Japan

4. Matudo Clinic, Chiba, Japan

Abstract

Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation. She had suffered parotid swelling since the age of 5 years, prior to liver dysfunction becoming apparent, and then developed hyperamylasemia at 8 years of age. At age 25 years, she presented with hyperammonemia and elevations of aspartate aminotransferase and alanine aminotransferase. At age 27 years, she was diagnosed with arginase deficiency due to hyperargininemia and absent arginase activity in erythrocytes. Liver cirrhosis was also present. She was hospitalized several times for management of episodic hyperammonemia due to recurrent viral infections, an unbalanced diet, and poor compliance with medications.

Publisher

SAGE Publications

Subject

General Medicine

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