エトウ　カオル   Etou Kaoru   衞藤　薫    所属   医学部 医学科（附属足立医療センター）    職種   講師
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.
掲載誌名	正式名：SAGE Open Medical Case Reports 略　 称：SAGE Open Med Case Rep ISSNコード：2050-313X
掲載区分	国外
巻・号・頁	11,pp.1-4
著者・共著者	☨Kuyama N, Nagaki S*, Miyamoto A, Eto K, Maruyama H, Osawa M
発行年月	2023/05/27
概要	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