Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients

ABSTRACT

We considered the clinical, biochemical and radiological findings, and response to pyridoxine [vitamin B6] of 24 classic homocystinuric patients [15 females, 9 males] diagnosed at King Faisal Specialist Hospital and Research Centre. Common clinical findings included ectopia lentis [20 patients], skeletal system involvement [18 patients], vascular system involvement [9 patients] and mental retardation [all patients to varying degrees]. A number of unusual findings were reported. The parents of 21 patients were first-degree relatives and 19 patients had at least one other family member affected by the same disease. Only 4 patients responded to pyridoxine; their methionine level decreased to almost normal range