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First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

✍ Scribed by Pierre F. Ray; Nadine Gigarel; Jean Paul Bonnefont; Tania Attié; Samir Hamamah; Nelly Frydman; Michel Vekemans; René Frydman; Arnold Munnich

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
99 KB
Volume
20
Category
Article
ISSN
0197-3851

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Lesch-Nyhan syndrome (LN) is a severe X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine phosphoribosyl transferase (HPRT). Clinical features displayed by affected boys are particularly severe and disturbing and include hyperuricaemia, characteristic neurological features