Maple Syrup Urine Disease
Maple Syrup Urine Disease, Branched-Chain Ketoaciduria and Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency are all synonyms for an autosomal recessive, metabolic disorder affecting branched-chain amino acids .
In 1954, Menkes et al reported a family in which 4 siblings died within the first three months of life because of neurologic disorders. The urine of these infants had an odor resembling maple syrup or burned sugar, this is why this disorder is called maple syrup urine disease.
In the following years, Dancis et al identified the pathogenic compounds as branched-chain amino acids and their corresponding alpha-keto acids. In 1960, Dancis et al demonstrated that this aminoacidopathy is secondary to an enzyme defect in the catabolic
In 1954, Menkes et al reported a family in which 4 siblings died within the first three months of life because of neurologic disorders. The urine of these infants had an odor resembling maple syrup or burned sugar, this is why this disorder is called maple syrup urine disease.
In the following years, Dancis et al identified the pathogenic compounds as branched-chain amino acids and their corresponding alpha-keto acids. In 1960, Dancis et al demonstrated that this aminoacidopathy is secondary to an enzyme defect in the catabolic