Two Siblings With Osteoporosis and Homocystinuria: Case Report

Decreased bone turnover or a defect in the structure of the matrix and connective tissue in bone microarchitecture can result in osteoporosis. Homocystinuria is a hereditary disorder due to defects of enzymes involved in the metabolism of methionine which affects the musculoskeletal system as well as other systems. Homocystinuria is one of the causes of secondary osteoporosis seen at early ages. Two adult siblings, who have been previously diagnosed with Marfan’s syndrome, presented with back pain and osteoporosis. The diagnosis of homocystinuria was established based on physical examination and laboratory findings. In this paper, we present these cases in order to emphasize that metabolic disease like homocystinuria should be kept in mind in the differential diagnosis of osteoporosis seen in early age group. Turk J Phys Med Rehab 2013;59:76-8.