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Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.
J Genet Couns
December 2022
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine-guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch-Nyhan syndrome (LNS) and is inherited in an X-linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self-mutilating behaviors.
View Article and Find Full Text PDFDescription of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.
Front Genet
April 2022
Department of Nephrology, Children's Hospital, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Zhejiang University School of Medicine, Hangzhou, China.
Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement disorder, and compulsive self-mutilation. The purpose of the present study was to characterize the genetic basis of LND and describe its phenotypic heterogeneity by identifying the variation in the gene in a cohort of Chinese LND patients. The median age at diagnosis was 31 mo (interquartile range (IQR): 7-76 mo), and the initial manifestations were mainly head control weakness and motor development delay.
View Article and Find Full Text PDFLesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia.
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