hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- an autosomal recessive syndrome characterized by elevated plasma levels of ornithine, postprandial hyperammonemia and homocitrullinuria, and aversion to protein ingestion. It is believed to result from a defect in the transport of ornithine into mitochondria, which disturbs the cycle of ureagenesis. Called also HHH s.
Medical dictionary.
2011.
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Hyperammonemia — Infobox Disease Name = PAGENAME Caption = Ammonia DiseasesDB = 20468 ICD10 = ICD10|E|72|2|e|70 ICD9 = ICD9|270.6 ICDO = OMIM = MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 162 eMedicine mult = eMedicine2|ped|1057 | MeshID = D022124… … Wikipedia
homocitrullinuria — An inherited disorder associated with elevated urinary levels of homocitrulline. * * * ho·mo·cit·rul·lin·uria (ho″mo sit″roo lĭ nuґre ə) excess of homocitrulline in the urine; see hyperornithinemia hyperammonemia… … Medical dictionary
hyperornithinemia — Elevated levels of ornithine in the serum; sometimes associated with hyperammonemia and homocitrullinuria. * * * hy·per·or·ni·thin·emia (hi″pər or″nĭ thĭ neґme ə) excessive ornithine in the plasma, such as occurs… … Medical dictionary
HHH syndrome — hyperornithinemia hyperammonemia homocitrullinuria s … Medical dictionary
Mitochondrieller Ornithin-Transporter — 1 Masse/Länge Primärstruktur 301 Aminosäuren … Deutsch Wikipedia
Urea cycle — The urea cycle (also known as the ornithine cycle) is a cycle of biochemical reactions occurring in many animals that produces urea ((NH2)2CO) from ammonia (NH3). This cycle was the first metabolic cycle discovered (Hans Krebs and Kurt Henseleit … Wikipedia
homocitrulline — ho·mo·cit·rul·line (ho″mo sitґroo lēn) an unusual amino acid formed by carbamoylation of the epsilon amino group of lysine; it is not normally present in urine but is excreted in hyperornithinemia hyperammonemia homocitrullinuria… … Medical dictionary
Ornithine translocase deficiency — Classification and external resources Ornithine ICD 9 … Wikipedia
List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… … Wikipedia
НЕДОСТАТОЧНОСТЬ ФЕРМЕНТОВ ЦИКЛА МОЧЕВИНЫ — мед. Недостаточность ферментов цикла мочевины приводит к ги пераммониемии и отравлению аммиаком. К этим ферментам отнесены: карбамоилфосфат синтетаза, орнитин карбамоил трансфераза, аргининосукцинат синтетаза, аргининосукцинат лиаза, аргиназа.… … Справочник по болезням