Maple syrup disease

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Abstract
The clinical picture of maple syrup disease, a cerebral degenerative condition with its onset in the first week of life and rapid progression to a decerebrate stage, is described. Urine excreted by patients with this condition has an odor strongly reminiscent of maple syrup. An accumulation of 3 keto acids[long dash]alpha-ketoisocaproic acid, alpha-ketoisovaleric acid, and alpha-keto-beta-methyl-n-valeric acid[long dash]together with the absence of other metabolites along the degradative pathway of leucine suggests that oxidative decarboxylation of the alpha-keto acids is blocked in this condition. A polymer of alpha-hydroxybutyric acid is believed to be responsible for the maple syrup odor. No partial block in oxidative decarboxylation could be demonstrated in relatives of affected children. Various possibilities as to the specific cause for the metabolic arrest have been examined, and it has been suggested that high tissue levels of alpha-ketoisocaproic acid inhibit the synthesis of cerebronic acids.