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New, treatable brain disorder reported NEW YORK, Jul 30 (Reuters) -- A type of genetic brain disorder has been discovered that may have been previously misdiagnosed as cerebral palsy (CP), a study reports. The distinction is important because the newly identified disorder is treatable, unlike CP, say researchers. The new disorder is a type of deficiency in GTP-cyclohydrase I (GCH), an enzyme in the brain that plays an important role in the breakdown of the amino acids tryptophan, phenylalanine, and tyrosine. Unlike cerebral palsy -- a catchall term used to describe the symptoms of brain injury in children, ranging from difficulty walking and talking to seizures and mental retardation -- the deficiency can be treated successfully with levodopa, a drug used for PARKINSON'S disease, according to Dr. Joel Trugman of the University of Virginia School of Medicine in Charlottesville, and colleagues from other centers in the US and Canada. Their findings are published in the July issue of the Annals of Neurology, a journal of the American Neurological Association. At least two children have been diagnosed with the new type of GCH deficiency. In the first, a 3-year-old girl could not speak, sit up or roll over on her own. Tests revealed that she carried two different defective GCH genes, one from each parent. The combination of the two mutant genes resulted in a disease that neither mutation could produce on its own. With treatment, she was able to walk and talk and attend school. A 17-year-old boy who had lost the ability to walk and speak by the age of 6 was found to have a similar genetic profile, and with treatment was able to walk with braces and attend school in a regular classroom. "Although the great majority of cerebral palsy patients suffer from brain injuries or diseases that medical science has yet to understand, the rare case exists that has been misdiagnosed because the symptoms and signs of neurological disorders are so complex," said Trugman in a statement issued by the American Neurological Association. At least two other disorders are caused by GCH deficiencies, namely autosomal dominant hereditary progressive dystonia/dopa-responsive dystonia (HPD/DRD) and autosomal recessive GCH-deficient hyperphenylalaninemia (HPA). SOURCE: Annals of Neurology 1998;44:10-16. -- Judith Richards, London, Ontario, Canada [log in to unmask]