Histidinemia

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 rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.cite journal |author=Taylor RG, Levi HL, McInnes RR |title=Histidase and histidinemia. Clinical and molecular considerations |journal=Mol Bio Med. |volume=8 |issue=1 |pages=101–116 |year=1991 |pmid=1943682 ]

Diagnosis and symptoms

Histidenemia is characterized by increased levels of histidine, histamine and imidazole in blood, urine and cerebrospinal fluid. This also results in decreased levels of the metabolite urocanic acid in blood, urine, and skin cells.

Though it may remain asymptomatic for a few years, symptoms will usually present by early childhood. Common symptoms include hyperactivity, speech impediment, developmental delay, learning difficulties, and sometimes mental retardation.

Prevalence

Histidinemia is a somewhat rare disorder. However, in Japan, it is the single most prevalent inborn error of metabolism.cite journal |author=Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Morishita H, Suchi M |title=Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene |journal=Hum Genet. |volume=116 |issue=5 |pages=340–346 |year=2005 |pmid=15806399 |doi=10.1007/s00439-004-1232-5 ]

ee also

* Prolinemia
* Sarcosinemia
* Tyrosinemia

References


Wikimedia Foundation. 2010.

См. также в других словарях:

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

  • 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 …   Medical dictionary

  • 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


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