Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of
arginase-1 deficiency
inherited urea cycle disorder
novel pathogenic mutation
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
27 Jan 2022
27 Jan 2022
Historique:
received:
27
06
2021
accepted:
27
09
2021
pubmed:
16
10
2021
medline:
25
3
2022
entrez:
15
10
2021
Statut:
epublish
Résumé
We described two Japanese siblings with arginase-1 (ARG1) deficiency. A 10-year-old girl (the proband and elder sister) was referred to our hospital complaining about her short stature. We diagnosed her with ARG1 deficiency, possibly with elevated levels of blood ammonia and plasma arginine. Her younger sister was found to have spastic paraparesis in her lower extremities and short stature at the age of 4 years. The younger sister also had high levels of plasma arginine, instead of normal levels of blood ammonia. Interestingly, they also prefer to avoid protein-rich foods such as meat, soybeans, cow milk, and dairy products. Genetic testing identified compound heterozygous mutations (c.121_122insCTT [p.Lys41Thrfs
Identifiants
pubmed: 34653322
pii: jpem-2021-0436
doi: 10.1515/jpem-2021-0436
doi:
Substances chimiques
Ammonia
7664-41-7
Arginine
94ZLA3W45F
ARG1 protein, human
EC 3.5.3.1
Arginase
EC 3.5.3.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
125-129Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
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