Maple syrup pee disease
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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks amino acids properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy lethargy , abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
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Maple syrup urine disease
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Related to maple syrup urine disease: maple syrup diet. All rights reserved. Synonym s : branched chain ketoaciduria , branched chain ketonuria , ketoacidemia. Segen's Medical Dictionary. Youngson , Mentioned in? References in periodicals archive?
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maple syrup urine disease
Maple syrup urine disease MSUD was first described as a rapid onset of Menkes' neurodegenerative disease in It is a defect of metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase BCKAD complex. This complex is responsible for the breakdown of branched-chain amino acids:. The underlying defect in the BCKAD complex disrupts the metabolism of branched-chain amino acids, which leads to an accumulation of branched-chain amino acids BCAAs in the plasma and their respective branched-chain ketoacids in the urine. It classically manifests in the neonatal period with failure to thrive, delayed developmental milestones, feeding difficulties, and a maple syrup odor in the urine or cerumen.
Maple syrup urine disease MSUD is an autosomal recessive  metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms. Variant forms of the disorder may become apparent only later in infancy or childhood, with typically less severe symptoms that may only appear during times of fasting, stress or illness, but still involve mental and physical problems if left untreated.