Homocarnosinosis


Homocarnosinosis is caused by an inherited defect in serum carnosinase, which converts homocarnosine to GABA (gamma aminobutyric acid). A defect in serum carnosinase causes accumulation of the brain specific dipeptide homocarnosine (Hca), in the CSF and brain. Symptoms include hypotonia, mental retardation, retinitis pigmentosa and spastic diplegia/quadriplegia.

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References

  1. OMIM
  2. Jansen EE, Gibson KM, Shigematsu Y, Jakobs C, Verhoeven NM: A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jan 18;830(2):196-200. Epub 2005 Nov 22. Pubmed