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Maple syrup urine disease
I try to read about current events related topics, and last night I was reading about the Amish when I came across Maple syrup urine disease. No kidding.
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder due to a deficiency of Branched chain α-keto acid dehydrogenase (BCKDH) that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine. Characterized by the urine having an odor similar to that of maple syrup, this results in severe mental retardation, and seizures. Because of a genetic bottleneck effect, MSUD has a much higher prevalence in children of Amish and Mennonite descent. Also called branched chain ketoaciduria.
From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated.
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and most severe form of the disease is the classic type, which appears soon after birth. Variant forms of the disorder appear later in infancy or childhood and are typically less severe, but still involve mental and physical retardation if not treated.
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