P44 Homocystinuria is a rare cause of fracture in young patients: a case report
Abstract
Homocysteinuira is a rare autosomal recessive disorder in the metabolism of sulfur-containing aminoacid caused by mutations in the cystathionine beta-synthase gene which encodes the pyridoxine dependent enzyme cystathionine beta-synthase. It is characterised by significant elevations in plasma and urine homocysteine concentrations and fractures.
We describe a case of homocysteinuira in a patient who suffered from a low impact patellar fracture, along with a literature review highlighting the critical relationship between homocysteine level and bone health.
We reported a 36-year-old female with homocysteinuira due to pyridoxine (B6) unresponsive severe Cystathionine Beta-Synthase deficiency. She developed a right patellar low-impact fracture with osteopenia on X-ray. Examination revealed severe scoliosis with bilateral aphakia (absence of the lens of the eye). Her labs showed, persistent high homocysteine above 100 umol/L (4-10), methionine 383 umol/L (10-42), vitamin D 12 ng/ml. Her spine X-ray revealed severe scoliosis with osteopenia but no fracture. Her DXA scan showed her Z-Score was within the expected range for her age in hip, spine and 1/3 radius areas, however her ultra-distal radius Z-Score was -4.0. Her homocysteine level was mostly higher than 100 due to non-compliance with dietary advice and treatment. The severity of complications primarily depends on the age at diagnosis and the residual cystathionine beta-synthase activity. Most homocysteinuira patients…
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