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

https://doi.org/10.1016/0002-9343(64)90104-4Get rights and content

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.

References (29)

  • D.H. Spackman et al.

    Automatic recording apparatus for use in the chromatography of amino acids

    Anal. Chem.

    (1958)
  • L. Liddle et al.

    The enzymatic spectrophotometric method for determination of uric acid

    J. Lab. & Clin. Med.

    (1959)
  • R.M. Archibald

    Colorimetric measurement of uric acid

    Clin. Chem.

    (1957)
  • J.E. Seegmiller et al.

    Uric acid production in gout

    J. Clin. Invest.

    (1961)
  • Cited by (0)

    This work was aided by Grant AM-07929 from the U. S. Public Health Service.

    Work carried out during the tenure of a Medical Student Research Fellowship (U. S. Public Health Service Experimental Training Grants 2-R-9(C4) and 2T5-GM9-06).

    1

    From the Departments of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

    2

    From the University of Miami School of Medicine, Miami, Florida.

    View full text