Osteoporosis International

, Volume 24, Issue 9, pp 2535–2538 | Cite as

Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency

  • J. S. Lim
  • D. H. Lee
Case Report


Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an inherited disorder of the metabolism of methionine. Clinical manifestations include mental retardation, dislocation of the optic lens, vascular lesions, arterial and venous thromboembolism, skeletal abnormalities, and osteoporosis. Most homocystinuria patients diagnosed in adulthood have severe osteoporosis, and homocystinuria is frequently mentioned as a cause of osteoporosis. Good control of plasma homocysteine may prevent or delay some of these complications. However, the effectiveness of bone mineral density (BMD) gain or fracture prevention has not been addressed. Here, we describe changes in BMD and body composition in 5 CBS deficiency patients who were diagnosed at young age and were managed with good metabolic control. We found that the BMD of each region was within the normal range. BMD gain was adequate and the patients had no significant change in skeletal morphology.


Bone mineral density Fracture Homocystinuria Osteoporosis 



We thank all study participants for their valuable contributions to this study. We also thank Dr. Yong Jae Park for gathering and confirming data.

Conflicts of interest



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Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2013

Authors and Affiliations

  1. 1.PediatricsKorea Cancer Center HospitalSeoulSouth Korea
  2. 2.PediatricsSoonChunHyang UniversitySeoulSouth Korea

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