Bone mineral density and Body composition change in well controlled children with Homocystinuria

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 224-247-Osteoporosis I
Clinical
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-247
Jungsub Lim*1 and Dong Hwan Lee2
1Korea Cancer Ctr Hosp, Seoul, South Korea, 2College of Medicine, Soonchunhyang University, Seoul, South Korea
Background: Homocystinuric patients diagnosed in adult show severe osteoporosis and homocystinuria is frequently mentioned one of cause of osteoporosis. However, the bone mineral densities (BMD) and body composition change of children, who diagnosed young and with good metabolic control, are not known.

Subjects and methods: Five homocystinuric children (aged 10.8 ± 8.2 year; 2 male; 3 diagnosed by newborn screening) with cystathionine β synthase deficiency were treated with a special formula free of methionine and supplemented by pyridoxine, cystadane, and folic acid. The BMD and body composition were serially monitored using a Lunar Prodigy Advance Dual-energy X-ray absorptiometry for 3.4 years.

Results; In base line, the BMD Z-score of the lumbar spine, femur neck, and total body of were -0.6 ± 0.5, -1.1± 0.2, and 1.8 ±1.5 respectively. The BMD Z-score at 3.4 year later were -0.4±0.6, -1.2 ±0.6 and 1.0 ± 1.3. The bone mineral contents, lean mass and fat mass Z-score were also did not change during follow-up. However, fractures were reported 4 times in 3 patients, among those 2 patients had mild compression fracture on lumbar spine on X-ray and had history of severe back pain. Patients who were diagnosed at newborn screening showed little skeletal abnormalities compared those who diagnosed by other symptoms.

Conclusion: Good metabolic control of homocystinuric patients seems to prevent bony anomaly and adequate BMD gain. However, small number of study patients limit to make a definite conclusion on fracture prevention. Further longitudinal studies with more case will be required.

1. Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H (2000) Osteoporosis in late-diagnosed adult homocystinuric patients. J Inherit Metab Dis. 23:338-340 2. Massé PG, Boskey AL, Ziv I, Hauschka P, Donovan SM, Howell DS, Cole DE (2003) Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model. BMC Musculoskelet Disord. 20;4:2

Nothing to Disclose: JL, DHL

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

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