衞藤　薫    Department   School of Medicine(Tokyo Women's Medical University Adachi Medical Center), School of Medicine    Position   Assistant Professor
Article types	Case report
Language	English
Peer review	Peer reviewed
Title	Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.
Journal	Formal name：SAGE Open Medical Case Reports Abbreviation：SAGE Open Med Case Rep ISSN code：2050-313X
Domestic / Foregin	Foregin
Volume, Issue, Page	11,pp.1-4
Author and coauthor	☨Kuyama N, Nagaki S*, Miyamoto A, Eto K, Maruyama H, Osawa M
Publication date	2023/05/27
Summary	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 27years, 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.
DOI	10.1177/2050313X231181836