![]() ![]() Symptoms associated with classic MSUD also appear in intermediate MSUD. The majority of children with intermediate MSUD are diagnosed between the ages of 5 months and 7 years. Intermediate MSUD has greater levels of residual enzyme activity than classic MSUD. ![]() Additional signs and symptoms that can be associated with classic MSUD include intellectual limitation and behavioral issues. Although MSUD can be stabilized, there are still threats of metabolic decompensation and loss of bone mass that can lead to osteoporosis, pancreatitis, and intracranial hypertension. If MSUD is left untreated, central neurologic function and respiratory failure will occur and lead to death. These neurologic signs include athetoid, hypertonia, spasticity, and opisthotonus that lead to convulsions and coma. The infant will then experience increased focal neurologic signs. Subtle symptoms include poor feeding, either bottle or breast, lethargy, and irritability. Infants with classic MSUD will display subtle symptoms within the first 24–48 hours. Symptoms of MSUD varies between patients and is greatly related to the amount of residual enzyme activity. In populations to whom maple syrup is unfamiliar, the aroma can be likened to fenugreek, and fenugreek ingestion may impart the aroma to urine. The smell is also detected in ear wax of an affected individual during metabolic crisis. The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic crisis. ![]() The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax, particularly prior to diagnosis and during times of acute illness. Maple syrup urine disease ( MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Leucine (pictured above), Isoleucine, and valine are the branched-chain amino acids that build up in MSUD. Blood tests will likely be required together with close input of the patients’ metabolic team.Medical condition Maple syrup urine disease 1 Additionally, patients will require an emergency treatment regime that differs from their usual diet/treatments during periods of illness to prevent the development of a metabolic crisis. 1 This can be triggered by a childhood illness and so it is vital that it is recognised and medically managed quickly. Patients and families of patients must be educated about the condition in order to identify the signs of a toxic build up of amino acids in the blood – this is called a metabolic crisis. Patients require regular blood tests to monitor amino acid blood levels together with regular developmental checks such as height and weight. 2Ī baby with MSUD will have a highly regulated milk (may be formula or breastmilk) intake according to specialist metabolic dietetic input in order to meet their nutritional requirements. 1 The aim is to keep the blood levels of leucine, isoleucine and valine within a specific target range. Foods containing high amounts of protein must be avoided such as meat, fish, eggs, bread and pasta. MSUD is managed with a special low protein diet which includes protein substitutes, vitamin and mineral supplements and a measured amount of protein containing foods. The effects of MSUD quickly become life-threatening if unmanaged and early management can prevent brain damage and learning difficulties. Older children with MSUD may develop symptoms later and present with developmental delay or vomiting/diarrhoea. However patients may develop symptoms before the test is carried out such as poor feeding, vomiting, dehydration, lethargy or seizures. In patients with MSUD, this test will detect high levels of the amino acid leucine in the blood. This involves testing a small blood sample collected from pricking of the baby’s heel. MSUD is usually diagnosed from the newborn blood spot screening test which is offered to all babies approximately 5 days after birth to test for several conditions including MSUD. Therefore, these amino acids accumulate in the blood of patients with MSUD. This enzyme is responsible for breaking down three amino acids called leucine, isoleucine and valine. In MSUD, the body lacks an enzyme called branched chain ketoacid dehydrogenase. MSUD is a serious inherited metabolic disorder that can lead to severe brain damage if unmanaged. ![]()
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