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maple-syrup urine disease
maple-syrup urine disease Maple-syrup urine disease is an inherited autosomal recessive metabolic disorder in which the body cannot properly break down branched-chain amino acids.
Maple-syrup urine disease is an inherited autosomal recessive metabolic disorder in which the body cannot properly break down branched-chain amino acids. Their buildup in body fluids gives a maple-syrup odor, and the condition can appear in several forms, with severe symptoms beginning in the first week of life or later episodes of ataxia and vomiting in childhood or beyond.