Although MSUD has been known for decades, it is a rare disease and only recently have guidelines for its management been published. In individuals with MSUD, acute illness can lead to a metabolic crisis, cerebral edema, and irreversible neurologic injury. Metabolic crisis can be triggered by catabolic states releasing branched chain amino acids from skeletal muscles or by decreased natural protein tolerance due to physiologic stress. The condition is typically detected on metabolic newborn screen and is treated by limiting dietary intake of natural protein containing branched chain amino acids while providing adequate essential non branched chain amino acids via special medical food. Untreated, the buildup of these acids leads to progressive metabolic ketoacidosis, encephalopathy, and cerebral edema. Maple Syrup Urine Disease is an inherited metabolic disorder of amino acid metabolism in caused by deficiency in branched chain ketoacid dehydrogenase enzyme leading to the accumulation of branched chain amino acids (BCAA) such as leucine, isoleucine, and valine. ![]() We propose that growth hormone and other protein anabolic agents may be valuable adjuvants to standard therapy in children with inherited metabolic disease. The discussion includes a literature review of the use of growth hormone in inherited diseases of amino acid metabolism and a brief discussion of protein anabolic pharmacotherapeutic agents shown to improve net protein balance in pediatric burn patients. This is the first known case report of the use of growth hormone in MSUD since contemporary dietary management became available. The initiation of short courses of growth hormone correlated with corrected mental status, resolution of metabolic acidosis, and improvement in plasma leucine levels on two occasions during an admission to the pediatric intensive care unit. This paper reports the use of growth hormone as a pharmacologic rescue agent in the case of an 11-year-old male with MSUD and metabolic crisis refractory to standard interventions. It is conventionally treated with intensive nutritional therapy to prevent and correct metabolic crisis. ![]() Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of branched chain amino acid metabolism characterized by cerebral edema and death in uncorrected metabolic crisis.
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