DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings.
DNAJC12
Hyperphenylalaninemia
NewBorn screening
Phenylketonuria
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:
Dec 2023
Dec 2023
Historique:
received:
02
08
2023
revised:
09
09
2023
accepted:
10
09
2023
medline:
6
12
2023
pubmed:
6
12
2023
entrez:
6
12
2023
Statut:
epublish
Résumé
DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the We describe two sisters born to consanguineous parents. The youngest sister (Patient 1), initially asymptomatic, tested positive at NewBorn Screening (NBS) for mild HPA. After variants in the These two new patients with
Sections du résumé
Background
UNASSIGNED
DNAJC12 co-chaperone protein deficiency has been recently described as a stand-alone metabolic disorder explaining many cases of mild hyperphenylalaninemia (HPA) that are not caused by variants in the
Results
UNASSIGNED
We describe two sisters born to consanguineous parents. The youngest sister (Patient 1), initially asymptomatic, tested positive at NewBorn Screening (NBS) for mild HPA. After variants in the
Conclusions
UNASSIGNED
These two new patients with
Identifiants
pubmed: 38053929
doi: 10.1016/j.ymgmr.2023.101008
pii: S2214-4269(23)00054-X
pmc: PMC10694740
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101008Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors have no relevant financial or non-financial interests to disclose.
Références
J Med Genet. 2017 Aug 9;:
pubmed: 28794131
Gene. 2023 Jun 15;869:147397
pubmed: 36990253
Eur J Hum Genet. 2018 Dec;26(12):1867-1870
pubmed: 30139987
Hum Mutat. 2020 Jul;41(7):1329-1338
pubmed: 32333439
JIMD Rep. 2022 Jan 27;63(2):146-161
pubmed: 35281663
Brain Dev. 2023 Oct;45(9):523-531
pubmed: 37156708
Ann Neurol. 2017 Oct;82(4):640-646
pubmed: 28892570
JIMD Rep. 2018;42:99-103
pubmed: 29380259
Am J Hum Genet. 2017 Feb 2;100(2):257-266
pubmed: 28132689
Neurol Sci. 2023 Jun;44(6):2167-2172
pubmed: 36897462
J Pediatr Endocrinol Metab. 2023 Jun 07;36(8):791-797
pubmed: 37283250
Cell Stress Chaperones. 2014 May;19(3):439-46
pubmed: 24122553
Orphanet J Rare Dis. 2017 Oct 12;12(1):162
pubmed: 29025426