![]() However, damage accumulated due to prolonged amino acid imbalance is not reversible. The brain damage accumulated in an acute episode is often reversible. ![]() Acute episodes of amino acid imbalance usually require hospitalization due to the nausea and vomiting. If left untreated further symptoms may develop including nausea, anorexia, dystonia, ataxia, cognitive impairment, hallucinations, and sleep disturbances. It is the most severe of all the sub-types. Classic maple syrup urine disease presents with all of the classic symptoms within hours and days of birth. There are four sub-types of maple syrup urine disease: classic, intermediate, intermittent and thiamine-responsive. These individuals may only show symptoms when stressed by fasting, which can include poor eating, poor growth, irritability, developmental delays, acute leucinemia, ketonuria, and encephalopathy. Individuals with intermediate MSUD have partial enzyme activity, so their presentation is different. At age 7-10 days a coma and respiratory failure will occur and may lead to death. Certain movements described as "fencing" and "bicycling" can also be seen. Signs of this include lethargy (a lack of energy), episodes of apnea where they stop breathing, and muscle spams. ![]() The brain function begins to be affected at 4-5 days old. At age 2-3 days poor feeding and irritability are present as well as ketonuria- the presence of ketones in the urine. The branched-chain amino acids are leucine, isoleucine, and valine. ![]() The next symptom seen (within 12-24 hours of birth) is increased levels of the branched-chain amino acids in the plasma. The first symptom of maple syrup urine disease is the maple syrup odor to the urine and is noted within the first twelve hours after birth. If the diagnosis is confirmed the infant may need to be transferred to the Children’s University Hospital once the infant’s condition has been stabilised.If a newborn is untreated the following symptoms occur in classic MSUD. Once the baby has been admitted and clinically examined, the urine should be tested for the presence of ketones and a blood sample obtained and sent urgently to the Metabolic Laboratory at Temple Street for amino acid analysis.ĥ. The local paediatric registrar is asked to contact the On-call Consultant Metabolic Paediatrician to discuss the management of the baby on arrival.Ĥ. contact the on-call metabolic medical scientist to inform them to expect a sample for branched chain amino acidsģ.The Registrar is asked to arrange immediate admission either to Temple Street or to the local Neonatal Unit as advised by the NNBSL The Registrar is asked to contact the parents and inform them that their baby may have one of the metabolic conditions screened for as part of the heel-prick test. Clear instructions are given to include the child’s demographic details, the condition suspected and the arrangements for admission. contact the paediatric registrar associated with the Maternity Unit in which the baby was born.The Clinical Liaison Officer (NNBSL) will: The test results are discussed with the On-call Consultant Metabolic Paediatrician and a decision made as to where and when the child should be admitted as an inpatient.Ģ. When the bloodspot leucine (including isoleucine) is raised, MSUD is suspected the following clinical procedure is implemented:ġ. Some variant forms of Maple Syrup Urine Disease may not be detectable in the newborn period and may present clinically later in life.Īction following detection of raised result However, urgent medical intervention may be required during acute illnesses, such as infections or ‘stress’. Normal brain development and good health result from early treatment life long adherence to the diet is mandatory. The branched amino acids accumulate in the blood following the establishment of feeding and these high levels cause brain damage.Ī diet similar to that for PKU but with low levels of the offending amino acids is started as soon as the diagnosis is made. Screening was originally justified on the basis that chronic physical and intellectual handicap and premature death had occurred in a number of families where this condition had gone undetected. The disorder is so called because the urine may have an odour similar to that of maple syrup. Approximately one in every 125,000 babies born in Ireland may have this condition or about one baby every two years. It is an autosomal recessive disorder caused by a defect in the metabolism of the three branched chain amino acids. Maple Syrup Urine Disease is a life threatening condition if it is not detected and treated early.
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