A familial disorder of uric acid metabolism and central nervous system function
A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in these patients were found to be similar in size to those reported for gouty adult subjects; their rates of turno...
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| Published in | The American journal of medicine Vol. 36; no. 4; pp. 561 - 570 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.04.1964
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9343 1555-7162 |
| DOI | 10.1016/0002-9343(64)90104-4 |
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| Abstract | A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in these patients were found to be similar in size to those reported for gouty adult subjects; their rates of turnover were greater than any previously reported. The daily excretion of uric acid in the urine was considerably higher than those of control patients and approximated total values found in gouty adult “hyperexcretors.” The formation of uric acid from glycine in these patients exceeded that of control patients by 200 times. These data suggest that the patients described represent a distinct clinical and metabolic syndrome. |
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| AbstractList | A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive biting has been described in two brothers aged five and eight years. The uric acid pools in these patients were found to be similar in size to those reported for gouty adult subjects; their rates of turnover were greater than any previously reported. The daily excretion of uric acid in the urine was considerably higher than those of control patients and approximated total values found in gouty adult “hyperexcretors.” The formation of uric acid from glycine in these patients exceeded that of control patients by 200 times. These data suggest that the patients described represent a distinct clinical and metabolic syndrome. |
| Author | Nyhan, William L. Lesch, Michael |
| Author_xml | – sequence: 1 givenname: Michael surname: Lesch fullname: Lesch, Michael organization: Baltimore, Maryland, USA – sequence: 2 givenname: William L. surname: Nyhan fullname: Nyhan, William L. organization: Miami, Florida, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/14142409$$D View this record in MEDLINE/PubMed |
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| Keywords | CHROMIUM ISOTOPES CLINICAL RESEARCH GOUT CEREBROSPINAL FLUID CHILD URIC ACID ATHETOSIS CENTRAL NERVOUS SYSTEM DISEASES CHOREA BLOOD CHEMICAL ANALYSIS MONGOLISM URINE CEREBRAL PALSY MENTAL RETARDATION INFANT GENETICS, HUMAN INFANT, NEWBORN |
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Med. – volume: 4 start-page: 931 year: 1950 ident: BIB18 article-title: Gicht bei einem publication-title: Med. Monatsschr. – volume: 36 start-page: 1508 year: 1957 ident: BIB5 article-title: Overproduction of uric acid as the cause of hyperuricemia in primary gout publication-title: J. Clin. Invest. – volume: 30 start-page: 1190 year: 1958 ident: BIB6 article-title: Automatic recording apparatus for use in the chromatography of amino acids publication-title: Anal. Chem. – volume: 32 start-page: 799 year: 1962 ident: BIB25 article-title: Primary juvenile gout publication-title: Am. J. Med. – volume: 102 start-page: 631 year: 1961 ident: BIB26 article-title: Metabolic studies in a young child with elevated serum uric acid levels publication-title: Am. J. Dis. Child. – volume: 99 start-page: 517 year: 1962 ident: BIB29 article-title: Influence of age on glycine and purine metabolism publication-title: Arch. 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Chem. doi: 10.1093/clinchem/3.2.102 – volume: 29 start-page: 1104 year: 1950 ident: 10.1016/0002-9343(64)90104-4_BIB12 article-title: The effect of salicylates and adrenocorticotropic hormone upon the miscible pool of uric acid in gout publication-title: J. Clin. Invest. doi: 10.1172/JCI102343 – year: 1876 ident: 10.1016/0002-9343(64)90104-4_BIB15 – start-page: 570 year: 1927 ident: 10.1016/0002-9343(64)90104-4_BIB16 article-title: Common Disorders and Diseases of Childhood – volume: 36 start-page: 1508 year: 1957 ident: 10.1016/0002-9343(64)90104-4_BIB5 article-title: Overproduction of uric acid as the cause of hyperuricemia in primary gout publication-title: J. Clin. 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| SubjectTerms | Athetosis Biomedical Research Blood Chemical Analysis Central Nervous System Diseases Cerebral Palsy Cerebrospinal Fluid Child Chorea Chromium Isotopes Down Syndrome Genetics, Medical Gout Humans Infant Infant, Newborn Intellectual Disability OldMedline Uric Acid Urine |
| Title | A familial disorder of uric acid metabolism and central nervous system function |
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