Homocarnosinosis

Homocarnosinosis: Description, Causes and Risk Factors:An inborn error in metabolism in which homocarnosine levels are elevated, particularly in the cerebral spinal fluid.HomocarnosinosisHomocarnosinosis is a rare disorder of metabolism, which manifested as an abrupt increase in the content of homocarnosine (a constituent of the brain formed from L-histidine and ?-aminobutyric acid) in CSF and brain tissue. This disease is also accompained by abnormally high excertion of carnosine in the urine and reduced ability to convert anserine into N-methylhistidine. The homocarnosine content in CSF is increased in patients with homocarnosinosis to an approximately the same extent as the carnosine content in the urine.A gene encoding a distinic homocarnosinase activity has not been reported, and current evidence suggest that homocarnosinase and carnosinase (locus 18q21.3) are identical. The exact mode of inheritance remains to be determined.The homocarnosine content in the biopsy sample of the frontal cerebral cortex taken from the patient was found to be four times higher than normal level, whereas the concentration of GABA (?-aminobutyric acid) and histidine remained at normal levels. The activity of carnosine (homocarnosine) synthase was also maintianed at a normal level, where as the homocarnosinase activity was completely absent.By now, the metabolic changes typical of homocarnosinosis have been found in four members of a Norwegian family. Severe motor dysfunction, retinal pigmentation, and mental deterioration were found in three of them. However, their mother was apparently healthy against the background of the same biochemical changes. Thus, it is still obscure if there is a connection between the biochemical and neurological disorder mentioned above.Symptoms:Symptoms can include:Progressive spastic diplegia. Diagnosis:First-line investigation includes quantitation of homocarnosine in CSF, although care must be taken to avoid artefactual hydrolysis of homocarnosine. Carnosinase may be readily measured in plasma using either radiometric or amino quantitation methodology.Homocarnosinase could not be detected in normal human brain extracts after isoelectric focusing (IEF) or DEAE-cellulose column chromatography. The ability of brain extracts to hydrolyze homocarnosine thus appears to be attributable solely to the serum carnosinase which is present because of serum trapped in the brain sample.Treatment:There is no known treatment. Low-histidine diet can cause the significant decrease in homocarnosine levels. However, the effect on neurological symptoms is uncertain.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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