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serum carnosinase deficiency |
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carnosinase /car·no·sin·ase/ (kahr´no-sĭ-nās″) an enzyme that hydrolyzes carnosine (amino-acyl-l-histidine) and other dipeptides containing l-histidine into their constituent amino acids.
serum carnosinase deficiency an aminoacidopathy characterized by urinary excretion of carnosine, homocarnosine in cerebrospinal fluid, and sometimes myoclonic seizures, severe mental retardation, and spasticity.
serum carnosinase deficiency, an autosomal-recessive aminoacidopathy of carnosine metabolism, characterized by urinary excretion of carnosine and accumulation of homocarnosine in the cerebrospinal fluid. This deficiency may cause myoclonic seizures, severe mental retardation, and spasticity. Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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