Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Developmental disability
Intellectual disability
Physical manifestation
Social support
Urea cycle disorders
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
23
01
2021
accepted:
24
01
2021
entrez:
22
2
2021
pubmed:
23
2
2021
medline:
23
2
2021
Statut:
epublish
Résumé
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status of UCD patients in Japan regarding diagnosis, treatments, and outcomes. A total of 229 patients with UCDs (126 patients: ornithine transcarbamylase deficiency [OTCD]; 33: carbamoyl phosphate synthetase 1 deficiency [CPS1D]; 48: argininosuccinate synthetase deficiency [ASSD]; 14: argininosuccinate lyase deficiency [ASLD]; and 8: arginase 1 deficiency [ARG1D]) were enrolled in the present study. Although growth impairment is common in patients with UCDs, we discovered that Japanese patients with UCDs were only slightly shorter than the mean height of the general adult population in Japan. Patients with neonatal-onset UCDs are more likely to experience difficulty finding employment and a spouse; however, some patients with late-onset UCDs were employed and married. Additionally, intellectual and developmental disabilities, such as attention deficit hyperactivity disorder (ADHD) and autism, hinder patients with UCDs from achieving a healthy social life. Moreover, we identified that it is vital for patients with UCDs presenting with mild to moderate intellectual disabilities to receive social support. Therefore, we believe the more robust social support system for patients with UCDs may enable them to actively participate in society.
Identifiants
pubmed: 33614409
doi: 10.1016/j.ymgmr.2021.100724
pii: S2214-4269(21)00018-5
pmc: PMC7876628
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100724Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
All authors declare that there are no conflicts of interest in relation to the current study.
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