Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.
Arginase deficiency
hyperammonemia
hyperamylasemia
liver cirrhosis
parotid gland swelling
Journal
SAGE open medical case reports
ISSN: 2050-313X
Titre abrégé: SAGE Open Med Case Rep
Pays: England
ID NLM: 101638686
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
03
2023
accepted:
27
05
2023
medline:
28
6
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37377459
doi: 10.1177/2050313X231181836
pii: 10.1177_2050313X231181836
pmc: PMC10291395
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2050313X231181836Informations de copyright
© The Author(s) 2023.
Déclaration de conflit d'intérêts
The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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