Publications

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Cognitive functioning in patients entering a study of homocystinuria due to cystathionine beta-synthase deficiency (HCU)
HCU is an inherited disorder of methionine metabolism, leading to abnormal accumulation of homocysteine and its metabolites. Developmental delay and intellectual disability are common among poorly controlled individuals, but early detection and consistent biochemical correction may result in improved intellectual functioning. Study CBS-HCY-NHS-01 is a prospective observational study of the natural history of patients with HCU on current therapy. Ongoing data collection will allow for investigation of biochemical markers and neuropsychological functioning over time. » Read More
Baseline bone mineral density (BMD) of patients in an ongoing study of homocystinuria due to cystathionine beta-synthase deficiency (HCU)
HCU is a disorder of methionine metabolism, leading to accumulation of homocysteine. Skeletal abnormalities including osteoporosis are common in poorly-controlled patients, but onset may be delayed or prevented with consistent biochemical control. CBS-HCY­ NHS-01 is an observational study of the natural history of patients with HCU on current therapy. Our ongoing study will be able to shed a light on the status and clinical course of BMD in pediatric and adult patients with HCU. » Read More
Characteristics of patients entering a study of homocystinuria due to cystathionine beta-synthase deficiency (HCU)
HCU is the major genetic disorder of sulfur metabolism, with abnormalities in the visual, skeletal, vascular and central nervous systems. Elevated plasma levels of total homocysteine (tHcy) are implicated in the pathophysiology. Study CBS-HCY-NHS-01 is a comprehensive,longitudinal, natural history study in the US, UK and Ireland documenting the clinical course of patients with HCU on current therapy. Data will allow for the development of standardized clinical outcome parameters and inform statistical analyses for future interventional studies. » Read More