MSUD treatment has come a very long way. With earlier diagnosis, the availability of medical formulas and better treatment during metabolic crises, more people with MSUD are able to keep leucine levels under adequate control and live mostly independent and satisfying lives.
As discussed in this newsletter, researchers have turned their attention to the neuropsychological effects of MSUD. Just how does this disease affect the brain? How do we help schools identify the services our children need to ensure their success? Will transplant reverse deficits in executive functioning?
Paula McLaughlin and colleagues recently published a case study describing the results of neuropsychological testing in a 26 year old woman 2 years after she had a liver transplant. In addition to MSUD, she had been diagnosed with ADHD, anxiety, and depression in childhood. The authors noted that the seizures and hallucinations she was prone to pre-transplant had stopped, but she continued to struggle with planning, time management, and attention, all aspects of executive functioning. Abstract reasoning, impulse control and problem-solving remained areas of difficulty for her. While speech, coordination, reading and driving were improved, anxiety and depression were heightened and she was receiving ongoing treatment.
As we learn more about the brain and how it is affected by MSUD, researchers are hopeful that effective treatments will be incorporated into early childhood care.