![]() ![]() Only a few cases of MSUD have been documented in. Thiamine-Responsive Maple Syrup Urine Disease (Thiamine-Responsive MSUD): Thiamine-responsive MSUD is approximately 30 to 40% the normal rate. Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). The common challenges in the diagnosis and management of this condition include late diagnosis. Clinical features include progressive neurologic deterioration, irregular and difficult respiration, hypertonia, bilateral optic nerve atrophy, and persistent metabolic acidosis. In the Philippines, MSUDs cumulative incidence is 1:68,406. Late onset of symptoms and clinical normality between attacks differentiate the condition from classic MSUD.Į3-Deficient Maple Syrup Urine Disease (MSUD Type III): Combined deficiency of the branched-chain α-ketoacid dehydrogenase pyruvate dehydrogenase and the α-ketoglutarate dehydrogenase complexes. ![]() Diet, oral health and general health influence each other in a vicious cycle. The treatment requires a life-long protein-restricted diet, rich in carbohydrates and fats, supplemented with a medical amino acid formula. Most children with intermediate MSUD are diagnosed between 5 months and 7 years old. Background Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability. Transient neurologic disorder can be a mode of presentation. Loss of bone mass, increased fractures and pancreatic inflammation Headaches, nausea and vomiting Intermediate MSUD differs from the classic form in that these individuals typically have a higher level of residual enzyme activity and a later onset of symptoms. I ntermittent Maple Syrup Urine Disease Type II (Intermittent MSUD MSUD Type II): Characterized by episodic ataxia, lethargy, semicoma, and elevated urinary branched-chain ketoacids. Other clinical features may include ophthalmoplegia, history of irritability, poor feeding, and failure to thrive. ![]() I ntermediate Maple Syrup Urine Disease Type IB (Intermediate MSUD MSUD Type IB): Characterized by mental retardation, severe psychomotor delay, mild systemic acidosis, and markedly increased plasmatic levels of branched-chain amino acids and urinary branched-chain ketoacids. This is the most common form of the disorder, 50% or more of the ketoacids are derived from leucine. Left untreated, death occurs by age 3 months. Affected newborns appear normal at birth, with symptoms developing between 4 and 7 days of age. Classic Severe Maple Syrup Urine Disease Type IA (Classic Severe MSUD MSUD Type IA): Characterized by a progressive infantile cerebral dysfunction defined as lethargy, failure to thrive and weight loss, severe metabolic derangement, hypotonia and/or hypertonia, progressive encephalopathy, seizures, and rapidly coma. ![]()
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