arginase deficiency

arginase deficiency
ar·gi·nase de·fi·cien·cy (ahrґjĭ-nās) 1. an autosomal recessive aminoacidopathy caused by mutations in the ARG1 gene (locus: 6q23), which encodes arginine 1. Arginine is elevated in blood and urine and may cause secondary cystinuria; oroticaciduria is common, but hyperammonemia is rare. Clinical signs include psychomotor retardation, hepatomegaly, and scalp discoloration. Called also argininemia and hyperargininemia.

Medical dictionary. 2011.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • Arginase — Liver arginase ArginasePDB 1CEV. Identifiers Symbol ARG1 …   Wikipedia

  • Arginase-Mangel — Klassifikation nach ICD 10 E72.2 Störungen des Harnstoffzyklus E72.4 Störungen des Ornithinstoffwechsels (Ornithinämie) …   Deutsch Wikipedia

  • arginase — An enzyme of the liver that catalyzes the hydrolysis of l arginine to l ornithine and urea; a key enzyme of the urea cycle. A deficiency of a. leads to arginemia. SYN: canavanase. * * * ar·gi·nase är jə .nās, .nāz n a crystal …   Medical dictionary

  • Argininemia — Infobox Disease Name = PAGENAME Caption = Arginine DiseasesDB = 29677 ICD10 = ICD9 = ICDO = OMIM = 207800 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 132 MeshID = D020162 Argininemia, also called arginase deficiency, [OMIM|207800] is an… …   Wikipedia

  • List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… …   Wikipedia

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • hyperargininemia — Elevated levels of arginine in the blood plasma; usually associated with a deficiency of arginase. * * * hy·per·ar·gin·in·emia (hi″pər ahr″jĭ nĭ neґme ə) 1. arginase deficiency. 2. excess of arginine in the blood …   Medical dictionary

  • Urea cycle disorder — Infobox Disease Name = PAGENAME Caption = ammonia DiseasesDB = ICD10 = ICD10|E|72|2|e|70 ICD9 = ICD9|270.6 ICDO = OMIM = MedlinePlus = 000372 eMedicineSubj = eMedicineTopic = MeshID = An urea cycle disorder or urea cycle defect is a genetic… …   Wikipedia

  • argininemia — ar·gi·ni·ne·mia (ahrґjĭ nĭ neґme ə) arginase deficiency …   Medical dictionary

  • 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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”