To date, approximately 100 mutations have been identified in four (branched-chain alpha-ketoacid decarboxylase/dehydrogenasealpha, E1beta, dihydrolipoyl transacylase, and E3) of the six genes that encode the human BCKDC catalytic machine. The long-term restriction of BCAA intake in diets and orthotopic liver transplantation have proven effective in controlling plasma BCAA levels and mitigating some of the above neurological manifestations. Reduced glutamate, glutamine, and gamma-aminobutyrate concentrations induced by the accumulation of branched-chain alpha-ketoacids in the brain cortex of affected children and neonatal polled Hereford calves are considered the cause of MSUD encephalopathies. There are presently five known clinical phenotypes for MSUD, i.e., classic, intermediate, intermittent, thiamin-responsive, and dihydrolipoamide dehydrogenase (E3)-deficient, based on severity of the disease, response to thiamin therapy, and the gene locus affected. A metabolic block in the oxidative decarboxylation of BCAA caused by mutations in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex (BCKDC) results in Maple Syrup Urine Disease (MSUD) or branched-chain ketoaciduria. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.Genetic disorders of BCAA metabolism produce amino acidopathies and various forms of organic aciduria with severe clinical consequences. This handout is intended to provide health information so that you can be better informed. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. They can also help you figure out what to tell the doctors once you arrive to the emergency room. The doctor can talk with you if you are concerned about whether to bring your child to the emergency room. You can reach them by calling 61 (pager #26396).Īsk the operator to page the Genetics and Metabolism doctor on call. There is a Genetics and Metabolism doctor available 24/7. Urinalysis, for specific gravity and ketones.CBC differential and WEBC count (if indicated).Signs include lethargy, confusion, ataxia, nausea, headaches and abdominal pain. Check neurological status for increased intracranial pressure or leucine encephalopathy. Page the Genetics and Metabolism MD on call at Massachusetts General Hospital.Have the doctors follow the steps below.īelow are steps to provide acute care to patients with MSUD. ![]()
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