ArticleDiagnostics (Basel, Switzerland)2024
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Article in Diagnostics (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Nucleotide Metabolism in Health and Disease.MedComm · 2026Review
- Discovery ofDiagnostics (Basel, Switzerland) · 2025Article
- Case report: Whole exome sequencing identifies a novel variant in theFrontiers in genetics · 2025Article
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Authors and funding
10 authors.
Funding
Abstract
backgroundLesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the
methodsExome sequencing and biochemical testing were used to confirm the diagnoses. Early clinical manifestations, including hyperuricemia, hypotonia, and developmental delay, were documented during the initial stages of the disease.
resultsAll three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay. Pathogenic variants in the
conclusionsEarly clinical features such as hyperuricemia, hypotonia, and motor delay may suggest LNS in infancy. Molecular genetic testing, particularly whole exome sequencing, can facilitate an early diagnosis before specific manifestations occur, enabling timely interventions and improving patient outcomes.
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