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Homo carnosinosis increased content of homo carnosine and deficiency of homo carnosinase in brain



Homo carnosinosis increased content of homo carnosine and deficiency of homo carnosinase in brain



Journal of Neurochemistry 32(6): 1637-1640



Biochemical studies were carried out on a brain biopsy obtained from a 40 yr old woman with homocarnosinosis. This patient and 2 of her siblings have a progressive neurological disorder characterized by spastic paraplegia, dementia and retinal pigmentation. Homocarnosine concentrations in their CSF, and in the CSF of their neurologically normal mother, are elevated 20- to 40-fold. Homocarnosine content was 4 times higher in the patient's frontal cortex than in biopsied cortex from a large group of control subjects. The activity of the synthetic enzyme, homocarnosine-carnosine synthetase, was not increased in the homocarnosinosis patient's brain. Homocarnosinase activity, however, was undetectable in the patient's brain biopsy, while it could readily be measured in comparable biopsies from control subjects. Homocarnosinase deficiency is probably inherited as an autosomal recessive trait, but it is unlikely of itself to have caused the neurological syndrome affecting these patients.

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Accession: 005584349

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PMID: 448356


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