serum carnosinase deficiency

serum carnosinase deficiency
an autosomal recessive aminoacidopathy of carnosine metabolism, due to deficiency of the serum isozyme of X-His dipeptidase; it is characterized by urinary excretion of carnosine and accumulation of homocarnosine in the cerebrospinal fluid and may cause myoclonic seizures, severe mental retardation, and spasticity. See also homocarnosinosis.

Medical dictionary. 2011.

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  • carnosinase — Mammalian enzyme that catalyzes the hydrolysis of carnosine, producing histidine and β alanine; a deficiency of the serum enzyme leads to elevated carnosine levels. * * * car·no·sin·ase (kahrґno sĭ nās″) X His dipeptidase …   Medical dictionary

  • Carnosinemia — Infobox Disease Name = PAGENAME Caption = Carnosine DiseasesDB = 29672 ICD10 = ICD10|E|70|8|e|70 ICD9 = ICD9|270.5 ICDO = OMIM = 212200 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Carnosinemia, also called carnosinase… …   Wikipedia

  • X-His dipeptidase — X His di·pep·ti·dase (di pepґtĭ dās) [EC 3.4.13.3] an enzyme of the hydrolase class that catalyzes the cleavage of the dipeptide carnosine into component amino acids β alanine and histidine; it also acts on some other aminoacyl L… …   Medical dictionary

  • НЕДОСТАТОЧНОСТЬ ФЕРМЕНТОВ — мед. Синдромы врождённых нарушений обмена веществ встречаются редко, но оказывают значительное влияние на физическое, интеллектуальное, психическое развитие и качество жизни (например, фенилкетонурия, гомоцистинурия, гликогенозы, синдромы ломкой… …   Справочник по болезням

  • homocarnosinosis — An inborn error in metabolism in which homocarnosine levels are elevated, particularly in the cerebral spinal fluid. * * * ho·mo·car·no·sin·o·sis (ho″mo kahr″no sĭ noґsis) an autosomal recessive aminoacidopathy characterized by… …   Medical dictionary

  • carnosinuria — car·no·sin·u·ria (kahr″no sĭ nuґre ə) urinary excretion of high levels of carnosine, such as occurs after ingestion of meat or fowl or in serum carnosinase deficiency …   Medical dictionary

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