histidinemia


histidinemia
A metabolic disorder characterized by speech defects, growth deficiency, and mild mental retardation in some patients; associated with elevation of blood histidine level and excretion of histidine and related imidazole metabolites in urine due to deficiency of histidine ammonia lyase or histidinase; autosomal recessive inheritance, caused by mutation in the histidinase gene (HIS) on chromosome 12q. [histidine + G. haima, blood, + -ia]

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his·ti·di·ne·mia or Brit his·ti·di·nae·mia .his-tə-də-'nē-mē-ə n a recessive autosomal metabolic defect that results in an excess amount of histidine in the blood and urine due to a deficiency of histidase
his·ti·di·ne·mic or Brit his·ti·di·nae·mic -mik adj

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his·ti·din·emia (his″tĭ-dĭ-neґme-ə) an autosomal recessive aminoacidopathy caused by mutation in the histidine ammonia-lyase gene (HAL, locus: 12q22-q23), resulting in deficiency of the enzyme; it is characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign. In some cases it may cause mild central nervous system dysfunction.

Medical dictionary. 2011.

Look at other dictionaries:

  • histidinemia — presencia de histidina en la sangre [ICD 10: E70.8] Diccionario ilustrado de Términos Médicos.. Alvaro Galiano. 2010. histidinemia Enfermedad metabólica hereditaria que afecta al amino …   Diccionario médico

  • histidinemia — histidinemia. См. гистидинемия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Histidinemia — Infobox Disease Name = PAGENAME Caption = Histidine DiseasesDB = 29669 ICD10 = ICD10|E|70|8|e|70 ICD9 = ICD9|270.5 ICDO = OMIM = 235800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Histidinemia, also referred to as histidinuria, is a… …   Wikipedia

  • histidinemia — noun A rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Syn: histidinuria …   Wiktionary

  • histidinemia — his·ti·di·ne·mia …   English syllables

  • histidinemia — …   Useful english dictionary

  • гистидинемия — histidinemia гистидинемия. Общее для человека и мыши наследственное заболевание, обусловленное дефицитом фермента гистидиназы, катализирующего дезаминирование гистидина <histidine>; как НЗЧ (передающееся по аутосомно рецессивному типу) Г.… …   Молекулярная биология и генетика. Толковый словарь.

  • histidinuria — Excretion of considerable amounts of histidine in the urine; frequently observed in later months of pregnancy, and in histidinemia. * * * his·ti·din·uria n(y)u̇r ē ə n the presence of an excessive amount of histidine in the urine (as in… …   Medical dictionary

  • Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 …   Wikipedia

  • Histidine — NatOrganicBox name=2 amino 3 (3H imidazol 4 yl)propanoic acid synonyms=Imidazole alanine PubChem = 773 CAS = 71 00 1 SMILES = N [C@@H] (Cc1 [nH] cnc1)C(O)=O C=6 | H=9 | N=3 | O=2 mass=155.16 g/molHistidine (abbreviated as His or H) [cite web |… …   Wikipedia