Maple Syrup Urine Disease (MSUD)

Maple syrup urine disease (MSUD), also termed as branched-chain ketoaciduria, is characterized by infants’ sweet-smelling urine, poor appetite, vomiting, weakness, and delayed development. This inherited disorder may lead to seizures, progressive neurodegeneration, coma, and eventually death when left untreated. This rare condition is caused by gene mutations which lead to the abnormal breakdown of certain proteins.

An early diagnosis may lead to an early treatment such as diet intervention. This may prevent intellectual disability and other complications. In 1954, Menkes and his colleagues reported a case of 4 infants, belonging to the same family, who died because of a neurodegenerative condition. It was noted that the infants’ urine smelled like burnt sugar or maple syrup.

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History of Psychology
History of Psychology