![]() ![]() Patients with the most severe form, classical MSUD, may appear normal at birth, but develop acute metabolic decompensation within the first weeks of life. One such condition, branched chain ketoacid dehydrogenase (BCKDH) deficiency, also known as maple syrup urine disease (MSUD), leads to accumulation of branched chain amino acids (BCAAs) (leucine, isoleucine, and valine) and their derivative α-ketoacids in blood and tissues. Hereditary disorders that cause neuropsychiatric sequelae are a window into the biological foundations of mental illness. These findings may provide insight into general mechanisms of psychiatric illness. In conclusion, amino acid dysregulation results in aberrant neural networks with neurochemical deficiencies that persist after transplant and correlate with neuropsychiatric morbidities. Neuropsychiatric morbidity and neurochemistry were similar among transplanted and nontransplanted MSUD patients. ![]() Asymptomatic neonatal course and stringent longitudinal biochemical control proved fundamental to optimizing long-term mental health. Using quantitative proton magnetic resonance spectroscopy, we found lower brain glutamate, N-acetylaspartate (NAA), and creatine concentrations in MSUD patients, which correlated with specific neuropsychiatric outcomes. Compared with 26 age-matched controls, MSUD patients were at higher risk for disorders of cognition, attention, and mood. We report the prevalence and characteristics of neuropsychiatric problems among 37 classical MSUD patients (ages 5–35 years, 26 on dietary therapy, 11 after liver transplantation) and explore their underlying mechanisms. Psychiatric illness is a reported MSUD complication, but has not been well characterized and remains poorly understood. Liver transplantation has emerged as an effective way to eliminate acute decompensation risk. Dietary management enables survival and reduces risk of acute crises. Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances.
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