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Journal of Bone and Joint Surgery, 1969;51:1564-1572.
© 1969 by The Journal of Bone and Joint Surgery, Inc

Homocystinuria

A REPORT OF TWO CASES AND REVIEW OF THE LITERATURE

RODNEY K. BEALS M.D.1

1 From the Crippled Children's Division and Division of Orthopedic Surgery, University of Oregon Medical School, Portland

Homocystiniuria is an inborn error of amino acid metabolism that produces generalized abnormalities which are not discernible at birth but which appear during growth and development.

Early diagnosis is of benefit to the family and probably to the affected individual; and, although no single physical abnormality is diagnostic of the disease, a simple urine test is available which will detect this amino acid disorder.

Orthopaedists should be alert to the possibility of homocystinuria in children with mental retardation, eye abnormalities, thromboembolic disease, seizures, scoliosis, genu valgum, cavus or flat feet, characteristic facies, osteoporosis, multiple fractures, or psychological disorders.


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