Year: 2024
Type: article
Study design: Case Report
Abstract: Background Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center. Methods This case series involved three male patients with LNS. Exome 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. Results All three patients had hyperuricemia, hypotonia, spasticity, and motor developmental delay. Pathogenic variants in the HPRT1 gene were identified in two patients, while the third was confirmed by biochemical testing. Two patients had orange-colored crystalline deposits in their diapers, indicative of hyperuricosuria. Self-injurious behavior had not yet developed in two patients due to their young age. Conclusions Early 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.
Source: Diagnostics
Institutions: Tri-Service General Hospital, Mackay Memorial Hospital, National Defense Medical Center, National Yang Ming Chiao Tung University, Mackay Medical University, Mackay Junior College of Medicine, Nursing and Management, Fu Jen Catholic University, China Medical University, China Medical University Hospital, National Taipei University of Nursing and Health Science
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,955
Awards: G1022499463, G2364594108, G3149592006, G4203584116, G522302956, Using in Vitro and in Vivo Systems to Study the Correlation between Various Mutation Points of Ids2 and Mucopolysaccharidosis( III ), To Verify the Efficiencies for Mps I and Iva Mutant Novel Gene Expressions and to Study the Genotype-Phenotype Correlations in Particular Knockout Zebrafish Lines( I ), To Verify the Gold Standard Used for the Confirmative Diagnosis of Mucopolysaccharidosis (Mps) and to Study the Effectiveness of Enzyme Replacement Therapy Accompanied by Hematopoietic Stem Cell Transplantation for Mps II Infants, G715103156
OpenAlex ID: W4405366638