Clinical Aspects, Biochemical and Neuropathological Disease of Sugar Maple Syrup

Abstract

Clinical , biochemical, and pathological changes affects infants 4 keto aciduria a designated disease called "maple syrup" are described , this disease results from a genetically induced defect , the metabolism of amino acids open chain , leucine, isoleucine and valine and is clinically characterized by early presentation, usually shortly after birth, anorexia, vomiting , irritability, delayed mental and motor development with the consequent disappearance of the Moro reflex , hypertonia generalized extensor , seizure type epileptiform and mainly by the elimination of urine with a peculiar , aromatic , pleasant odor that has been compared to the smell of maple sugar syrup ( maple syrup ) . Biochemically , the disease is characterized by an increase in plasma and urinary levels of leucine , isoleucine and valine and an associated increase in the respective keto acids in the urine ; all probably related to a deficiency in the oxidative decarboxylation of said alpha - keto acid , alpha- ketoisocaproic , alpha- ketoisovaleric cetobeta and alpha - methyl - n -valeric acid . Pathologically , the highlight is: a defect in myelin formation in the white matter of the entire brain , with focal areas of more severe involvement , spongy been present in certain areas of the white matter ; all associated to a decreased number of oligodendroglial cells, a diffuse astrocytosis and discrete changes of microglial cells. At no time morfolóqícos changes were observed in neurons. It also discusses some similarities between the findings in this condition and those observed in Spongy Degeneration Infant Conavan , Van Bogaert and Bertrand and phenyl -pyruvic oligophrenia.