Session: SAT 224-247-Osteoporosis I
Poster Board SAT-247
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.
Nothing to Disclose: JL, DHL
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