单词 | lesch-nyhan |
释义 | Lesch-Nyhann. Medicine. attributive, esp. in Lesch-Nyhan syndrome. Designating an inherited disorder of purine metabolism characterized by abnormally high levels of uric acid, compulsive biting of the lips and fingers, mental disability, and involuntary muscular movements. Also: designating patients affected by this syndrome. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1966 W. B. Reed & C. H. Fish in Arch. Dermatol. 94 195/2 Indications are that this syndrome is probably sex-linked... Since Lesch and Nyhan first described the signs and symptoms as an entity, the condition should be called the Lesch-Nyhan syndrome . 1969 Sci. News Let. 11 Oct. 327 Skin cells from patients with a genetic defect known as the Lesch-Nyhan syndrome lack an enzyme essential for incorporation of purine bases into new nucleic acids. 1975 Amer. Jrnl. Human Genetics 27 219 The mothers of Lesch-Nyhan cases will be either heterozygous (+/−) or homozygous normal (+/+). In the latter case the Lesch-Nyhan patient would have received a complete mutation from his mother. 1998 J. C. Harris Developmental Neuropsychiatry II. xi. 313/1 The self-injury that occurs in Lesch-Nyhan disease is a compulsive behavior. 2007 New Yorker 13 Aug. 32/1 A child born with Lesch-Nyhan syndrome seems normal at first, but by the age of three months he has become a so-called floppy baby. This entry has been updated (OED Third Edition, June 2018; most recently modified version published online March 2022). < n.1966 |
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