If the patient is unable to take a MSUD formula orally or by nasogastric tube, consider a specialized branched-chain amino acid-free parenteral solution available through specific pharmacies**. This BCAA-free MSUD formula should be administered until the leucine levels approach targets (leucine: 200 µmol/L for infants and children ≤5 years of age and 300 µmol/L for those >5 years of age). A specialized BCAA-free MSUD formula* should be started as soon as possible this is key to lowering leucine levels (see “hydration/caloric supplementation” category below). Other considerations during metabolic crisesĪll natural protein intake (e.g., breastfeeding, infant formulas) should be halted in the setting of a metabolic crisis. Provide hydration and high caloric supplementation Specific management guidelines are listed here, with details below:Įliminate leucine by stopping intake of all natural protein Should this be the case, we recommend that a patient with MSUD with signs of cerebral edema be stabilized as described below with rehydration and immediately transported to the nearest metabolic center. We recognize that many who access this protocol will not be at a metabolic center and, therefore, not have access to the specific MSUD products required for therapy nor the availability of an immediate amino acid analysis or hemodialysis described below. Caution should be exercised when considering the need for a lumbar puncture. *NOTE: Increased concentrations of leucine are toxic to the brain and accumulations may result in cerebral edema. Urinalysis for specific gravity and ketones Plasma amino acids (high leucine, isoleucine, valine elevated levels of allo-isoleucine in blood is pathognomonic of MSUD) - STATĬBC, differential WBC count, platelet count Neurologic status evidence of increased intracranial pressure, “leucine encephalopathy”*ĬT or MRI should be immediately performed on any patient who is encephalopathicĮlectrolytes (low sodium can be a sign of elevated/increasing leucine), measured CO2, glucose Increased ketoacids -> ketosis, metabolic acidosis When excessive protein is ingested, a similar increase in available amino acids occurs. infection, injury, surgery, febrile illness) produces endogenous protein breakdown leading to increase in the BCAA and related branched chain ketoacids. The types of presentations of MSUD include the classic (most severe and most common form at risk for major metabolic crisis in newborn and later periods), intermediate (elevations in metabolites with little or no risk for metabolic crisis), and intermittent (asymptomatic but at risk for metabolic crises during acute illness, usually infection).Ĭatabolic stress such as normal perinatal catabolism or an acute illness (e.g. As a consequence, the ketoacids and their precursor BCAA accumulate in blood with the toxic metabolic components being leucine and the ketoacids. These ketoacids form from the breakdown of the branched chain amino acids (BCAA): leucine, isoleucine, and valine. Maple Syrup Urine Disease (MSUD) is an autosomal recessive organic acid/amino acid disorder due to a defect in the Branched Chain Ketoacid Dehydrogenase (BCKD) enzyme, which catalyzes the breakdown of branched chain ketoacids. Jonathan Picker, Fragile X Program Director, and were most recently updated in 2020. Harvey Levy, Senior Physician in Medicine/Genetics and Dr.
These materials were developed at Boston Children’s Hospital under the direction of Dr. The acute illness materials are meant as a guideline for healthcare professionals treating the sick infant or child who is known to have maple syrup urine disease (MSUD).
Maple syrup urine disease medicine pdf#
Please read our Terms of Use.Ĭlick here to download a PDF of the MSUD Acute Illness Materials. It is essential to call or page the on-call genetics/metabolism fellow, or failing this, the on-call metabolic attending at your hospital or nearest pediatric tertiary care center, as rapidly as possible. This protocol is only a guideline and should NOT be used for definitive treatment without metabolic consultation. Metabolic crises in infants and children with organic acid disorders are complex medical emergencies and must be treated as such to avoid death or serious brain injury.
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