A case of hyperlysinemia identified by urine newborn screening.
aminoaciduria
ascertainment bias
lysine
newborn screening
sampling bias
substrate reduction therapy
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
11
08
2023
revised:
16
09
2023
accepted:
05
10
2023
medline:
6
11
2023
pubmed:
6
11
2023
entrez:
6
11
2023
Statut:
epublish
Résumé
Hyperlysinemia is a rare autosomal recessive deficiency of 2-aminoadipic semialdehyde synthase (AASS) affecting the initial step in lysine degradation. It is thought to be a benign biochemical abnormality, but reports on cases remain scarce. The description of additional cases, in particular, those identified without ascertainment bias, may help counseling of new cases in the future. It may also help to establish the risks associated with pharmacological inhibition of AASS, a potential therapeutic strategy that is under investigation for other inborn errors of lysine degradation. We describe the identification of a hyperlysinemia case identified in the Provincial Neonatal Urine Screening Program in Sherbrooke, Quebec. This case presented with a profile of cystinuria but with a very high increase in urinary lysine. A diagnosis of hyperlysinemia was confirmed through biochemical testing and the identification of biallelic variants in
Identifiants
pubmed: 37927488
doi: 10.1002/jmd2.12399
pii: JMD212399
pmc: PMC10623103
doi:
Types de publication
Case Reports
Langues
eng
Pagination
440-445Subventions
Organisme : NICHD NIH HHS
ID : R01 HD112518
Pays : United States
Organisme : NICHD NIH HHS
ID : R21 HD102745
Pays : United States
Informations de copyright
© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Sander M. Houten reports grants from NIH/Eunice Kennedy Shriver National Institute Of Child Health & Human Development during the conduct of the study. Robert J. DeVita reports grants from NIH/Eunice Kennedy Shriver National Institute Of Child Health & Human Development during the conduct of the study. Michael Lazarus reports grants from NIH/Eunice Kennedy Shriver National Institute Of Child Health & Human Development and NIH/National Institute of General Medical Sciences during the conduct of the study. The remaining authors declare no conflicts of interest.
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