Lesch-Nyhan Syndrome
"Lesch-Nyhan Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Descriptor ID |
D007926
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MeSH Number(s) |
C10.228.140.163.100.425 C10.574.500.536 C10.597.606.643.455.625 C16.320.322.500.625 C16.320.400.500 C16.320.400.525.625 C16.320.565.189.425 C16.320.565.798.594 C18.452.132.100.425 C18.452.648.189.425 C18.452.648.798.594
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Concept/Terms |
Lesch-Nyhan Syndrome- Lesch-Nyhan Syndrome
- Lesch Nyhan Syndrome
- Complete HGPRT Deficiency Disease
- Deficiency Disease, Complete HGPRT
- Lesch-Nyhan Disease
- Lesch Nyhan Disease
- HGPRT Deficiency Disease, Complete
- Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
- Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
- Hypoxanthine Phosphoribosyl Transferase Deficiency Disease
- Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
- Choreoathetosis Self Mutilation Hyperuricemia Syndrome
- Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase
- Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase
- Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
- Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
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Below are MeSH descriptors whose meaning is more general than "Lesch-Nyhan Syndrome".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Lesch-Nyhan Syndrome [C10.574.500.536]
- Neurologic Manifestations [C10.597]
- Neurobehavioral Manifestations [C10.597.606]
- Intellectual Disability [C10.597.606.643]
- Mental Retardation, X-Linked [C10.597.606.643.455]
- Lesch-Nyhan Syndrome [C10.597.606.643.455.625]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Mental Retardation, X-Linked [C16.320.322.500]
- Lesch-Nyhan Syndrome [C16.320.322.500.625]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Lesch-Nyhan Syndrome [C16.320.400.500]
- Mental Retardation, X-Linked [C16.320.400.525]
- Lesch-Nyhan Syndrome [C16.320.400.525.625]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lesch-Nyhan Syndrome [C16.320.565.189.425]
- Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
- Lesch-Nyhan Syndrome [C16.320.565.798.594]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lesch-Nyhan Syndrome [C18.452.132.100.425]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lesch-Nyhan Syndrome [C18.452.648.189.425]
- Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798]
- Lesch-Nyhan Syndrome [C18.452.648.798.594]
Below are MeSH descriptors whose meaning is more specific than "Lesch-Nyhan Syndrome".
This graph shows the total number of publications written about "Lesch-Nyhan Syndrome" by people in this website by year, and whether "Lesch-Nyhan Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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1987 | 0 | 1 | 1 |
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Below are the most recent publications written about "Lesch-Nyhan Syndrome" by people in Profiles.
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Becker MA, Losman MJ, Kim M. Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases. J Biol Chem. 1987 Apr 25; 262(12):5596-602.
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Becker MA. Effects of inosine on purine synthesis in normal and HGPRT-deficient human fibroblasts. Adv Exp Med Biol. 1977; 76A:370-5.
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Sweetman L, Borden M, Lesh P, Bakay B, Becker MA. Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase. Adv Exp Med Biol. 1977; 76A:319-25.
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Becker MA. Regulation of purine nucleotide synthesis. Effects of inosine on normal and hypoxantine-guanine phosphoribosyltransferase-deficient fibroblasts. Biochim Biophys Acta. 1976 Jun 18; 435(2):132-44.
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Johnson MG, Rosenweig S, Switzer RL, Becker MA, Seegmiller JE. Evaluation of the role of 5-phosphoribosyl-alpha-1-pyrophosphate synthetase in congenital hyperuricemia and gout: a simple isotopic assay and an activity stain for the enzyme. Biochem Med. 1974 Jul; 10(3):266-75.
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Becker MA, Seegmiller JE. Genetic aspects of gout. Annu Rev Med. 1974; 25(0):15-28.
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Wood AW, Becker MA, Minna JD, Seegmiller JE. Purine metabolism in normal and thioguanine-resistant neuroblastoma. Proc Natl Acad Sci U S A. 1973 Dec; 70(12):3880-3.
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Wood AW, Becker MA, Seegmiller JE. Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome. Biochem Genet. 1973 Jul; 9(3):261-74.
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Boyle JA, Raivio KO, Becker MA, Seegmiller JE. Effects of nicotinic acid on human fibroblast purine biosynthesis. Biochim Biophys Acta. 1972 May 10; 269(2):179-83.
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