Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency
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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.
KeywordsBone 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
- 1.Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2011 Apr 26]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK1524/
- 13.van Meurs JB, Dhonukshe-Rutten RA, Pluijm SM, van der Klift M, de Jonge R, Lindemans J, de Groot LC, Hofman A, Witteman JC, van Leeuwen JP, Breteler MM, Lips P, Pols HA, Uitterlinden AG (2004) Homocysteine levels and the risk of osteoporotic fracture. N Engl J Med 350:2033–2041PubMedCrossRefGoogle Scholar