Research from University of Colorado reveals new findings on cystinuria
2007 NOV 5 -- Data detailed in 'Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance' have been presented. According to a study from the United States, "We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G >A mutations in the MMACHC gene." "The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC. Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC," wrote A.C. Tsai and colleagues, University of Colorado. The researchers concluded: "Ten other reported late onset cases with similar presentations are also reviewed." Tsai and colleagues published the results of their research in American Journal of Medical Genetics Part A (Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. American Journal of Medical Genetics Part A, 2007;143(20):2430-4). For additional information, contact A.C. Tsai, University of Colorado School of Medicine, Division of Clinical Genetics and Metabolism, The Children's Hospital, Denver, Colorado 80218 USA.. The publisher of the American Journal of Medical Genetics Part A can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Denver, Cystinuria, Genetics, Homocystinuria, Mental Health, Metabolic Disease, Psychiatric, Psychiatry. This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2007, Mental Health Weekly Digest via NewsRx.com.
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