A case of hyperlysinemia identified by urine newborn screening.

Autor: Yeganeh M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire de Québec, Centre Mère-Enfant Soleil Université Laval Québec City Québec Canada., Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche-CIUSSS de l'Estrie-CHUS Université de Sherbrooke Sherbrooke Québec Canada., Maranda B; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche-CIUSSS de l'Estrie-CHUS Université de Sherbrooke Sherbrooke Québec Canada., Sabovic A; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA., DeVita RJ; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA.; Drug Discovery Institute Icahn School of Medicine at Mount Sinai New York New York USA., Lazarus MB; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA.; Drug Discovery Institute Icahn School of Medicine at Mount Sinai New York New York USA., Houten SM; Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2023 Oct 22; Vol. 64 (6), pp. 440-445. Date of Electronic Publication: 2023 Oct 22 (Print Publication: 2023).
DOI: 10.1002/jmd2.12399
Abstrakt: 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 AASS . The p.R146W and p.T371I variants are novel and affect the folding of the lysine-2-oxoglutarate domain of AASS. The 11-month-old boy is currently doing well without any therapeutic interventions. The identification of this case through newborn urine screening further establishes that hyperlysinemia is a biochemical abnormality with limited clinical consequences and may not require any intervention.
Competing Interests: 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.
(© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
Externí odkaz: