A familial disorder of uric acid metabolism and central nervous system function

• Published in: The American journal of medicine Vol. 36; no. 4; pp. 561 - 570
• Main Authors: Lesch, Michael, Nyhan, William L.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.1964
• Subjects: 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; 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
• ISSN: 0002-9343; 1555-7162
• DOI: 10.1016/0002-9343(64)90104-4

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.