Sunday, June 17, 2012

Ripe cheese odor

Leucine is one of the amino acids, which are the building blocks of proteins. Leucine is an essential amino acid meaning that the body cannot make leucine from scratch; it has to be obtained from the diet.
Isovaleric acidemia is a rare inherited disease in which there is a deficiency of the enzyme responsible for the processing of dietary leucine. Failure to process leucine results in the abnormal accumulation of isovaleric acid and other compounds, resulting in an affected individual having a body odor reminiscent of ripe cheese or sweaty feet/socks.
Isovaleric acidemia is a serious disorder that usually manifests in infancy with poor feeding, vomiting, convulsions and due to abnormal accumulation of isovaleric acid and other compounds there is damage to the nervous system.
Lee H et al. A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. Hong Kong Med J, 2010 16(3):219-22. Go to reference

Socks and cheese

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