Analbuminaemia

Analbuminaemia
Other namesCongenital analbuminemia
This condition is inherited in an autosomal recessive manner
SpecialtyEndocrinology
Symptomsmild oedema, reduced blood pressure, fatigue.
Usual onsetAdulthood
CausesGenetic
FrequencyApproximately one per million

Analbuminaemia or analbuminemia is a rare genetically inherited metabolic defect characterised by an impaired synthesis of serum albumin.[1] Although albumin is the most common serum protein, analbuminaemia is a benign condition.

Signs and symptoms

Analbuminaemia often presents in adulthood, with benign clinical features, such as mild oedema, low blood pressure and fatigue. Some patients may develop more serious symptoms such as lower body lipodystrophy. Severe hypercholesterolemia with increased serum low-density lipoprotein-cholesterol concentration and increased esterified cholesterol are often observed. Free fatty acids and raised apolipoprotein B may occur as well as increased serum high-density lipoprotein-3 and apolipoprotein A-I and A-II levels.[2]

It was shown that these persons have a normal life expectancy without substantial impairments.[3]

References

  1. ^ Watkins S, Madison J, Galliano M, Minchiotti L, Putnam FW (1994). "Analbuminemia: three cases resulting from different point mutations in the albumin gene". Proc. Natl. Acad. Sci. U.S.A. 91 (20): 9417–21. Bibcode:1994PNAS...91.9417W. doi:10.1073/pnas.91.20.9417. PMC 44823. PMID 7937781.
  2. ^ Crook, M (19 July 2016). "Analbuminaemia: clinical features and associated hypercholesterolaemia". Annals of Clinical Biochemistry. 53 (5): 525–526. doi:10.1177/0004563216657841. PMID 27329215.
  3. ^ Foster BM, Abdollahi A, Henderson GC (2023). "Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia-A Systematic Review". Biomolecules. 13 (3): 407. doi:10.3390/biom13030407. PMC 10046341. PMID 36979342.{{cite journal}}: CS1 maint: multiple names: authors list (link)


Stub icon

This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.

Read other articles:

Université du Michigan

Si ce bandeau n'est plus pertinent, retirez-le. Cliquez ici pour en savoir plus. Cet article ne cite pas suffisamment ses sources (septembre 2023). Si vous disposez d'ouvrages ou d'articles de référence ou si vous connaissez des sites web de qualité traitant du thème abordé ici, merci de compléter l'article en donnant les références utiles à sa vérifiabilité et en les liant à la section « Notes et références ». En pratique : Quelles sources sont attendues ?...

 

قائمة البعثات الدبلوماسية في كوريا الجنوبية

خريطة البعثات الدبلوماسية في جمهورية كوريا هذه قائمة بالبعثات الدبلوماسية في كوريا الجنوبية. توجد حاليًا 110 سفارات ومكتبين تمثيليين في سيول، وبعض الدول لديها قنصليات (لا تشمل القنصليات الفخرية) في مدن أخرى غير سيول. هناك العديد من الدول الأخرى التي تربطها علاقات دبلوماسية...

 

Night Sail

Sculpture in Los Angeles, California, U.S. Night SailThe sculpture in 2022ArtistLouise NevelsonLocationLos Angeles, California, U.S.Coordinates34°3′9″N 118°15′9.5″W / 34.05250°N 118.252639°W / 34.05250; -118.252639 Night Sail is a 1985 sculpture by Louise Nevelson, installed in Los Angeles, California, United States.[1][2][3] The artwork weighs 33 tons,[4] and has been described by the Los Angeles Times as a mysterious, Cubis...

University of California, Los Angeles

Public research university in California, U.S. UCLA redirects here. For other uses, see UCLA (disambiguation). University of California, Los AngelesFormer namesLos Angeles branch of the California State Normal School (1881–1887)Los Angeles State Normal School (1887–1919)Southern Branch of the University of California (1919–1927)University of California at Los Angeles (1927–1958)[1]MottoFiat lux (Latin)Motto in EnglishLet there be lightTypePublic land-grant research univer...

 

Niue Football Association

Niue Football AssociationOFCDidirikan2021; 3 tahun lalu (2021)Bergabung dengan FIFAN/ABergabung dengan OFCN/APresidenDeve Talagi[1] Asosiasi Sepak Bola Niue adalah badan yang mengatur kegiatan sepak bola di Niue. Asosiasi ini didirikan pada tahun 2021 sebagai penerus Asosiasi Sepak Bola Pulau Niue yang sekarang sudah tidak ada lagi. Presiden saat ini adalah Deve Talagi. Sejarah Pada bulan Maret 2021, setelah sepuluh tahun tidak aktif, Asosiasi Sepak Bola Pulau Niue dikeluarkan da...

 

Victor Lindelöf

Swedish footballer (born 1994) Victor Lindelöf Lindelöf playing for Sweden in 2019Personal informationFull name Victor Jörgen Nilsson Lindelöf[1]Date of birth (1994-07-17) 17 July 1994 (age 29)[2]Place of birth Västerås, SwedenHeight 1.87 m (6 ft 2 in)[3]Position(s) Centre-back[4]Team informationCurrent team Manchester UnitedNumber 2Youth career IK Franke Västerås IK2007–2009 Västerås SK2012–2013 BenficaSenior career*Years Team...

Mestaruussarja 1950

Mestaruussarja 1950 Competizione Mestaruussarja Sport Calcio Edizione 41ª Organizzatore SPL/FBF Luogo  Finlandia Partecipanti 10 Formula Girone all'italiana Risultati Vincitore Ilves-Kissat(1º titolo) Secondo KuPS Retrocessioni TuVeKullervo Statistiche Miglior marcatore Jorma Saarinen Yrjö Asikainen (15) Incontri disputati 90 Gol segnati 357 (3,97 per incontro) Cronologia della competizione 1949 1951 Manuale La Mestaruussarja 1950 fu la quarantunesima edizione della massima...

 

Siq

The Treasury, as seen from al-Siq, right before the passage ends. A niche at the entrance of al-Siq. al-Siq (Arab: السيقcode: ar is deprecated ) (translated: the shaft) adalah sebuah pintu masuk utama ke situs tua dari kota Petra di sebelah selatan Yordania. Pintu masuk tersebut, yang berupa celah sempit (terkadang di beberapa tempat, memiliki lebar tidak lebih dari 3 m), dengan jarak kurang lebih 1.2 km (kurang lebih 1 mil) dan berujung pada situs kota tua Petra, Al Khazneh (The Tr...

 

FX Productions

FX Networks' in-house production company FX Productions, LLCCompany typeDivisionIndustryTelevision ProductionFoundedAugust 7, 2007; 16 years ago (2007-08-07)ParentFX Networks20th Century Fox Television (2007–2019)Disney Television Studios (2019–present)Footnotes / references[1] FX Productions, LLC (FXP) is an American television and in-house production company owned by FX Networks (and jointed with Disney Television Studios),[1] a division of the...

Leonid Kozhara

Ukrainian politician Leonid KozharaЛеонід КожараKozhara in 2013Minister of Foreign AffairsIn office24 December 2012 – 23 February 2014PresidentViktor YanukovychPrime MinisterMykola AzarovPreceded byKostyantyn GryshchenkoSucceeded byAndrii Deshchytsia (acting)Ukrainian Ambassador to SwedenIn office14 November 2002 – 6 July 2004PresidentLeonid KuchmaPreceded byOleksandr SlipchenkoSucceeded byOleksandr Danyleiko Personal detailsBorn (1963-01-14) 14 January 1963 ...

 

Sebastian Münster

German cartographer, cosmographer, and scholar (1488–1552) Portrait of Sebastian Münster by Christoph Amberger, c. 1552 Sebastian Münster (20 January 1488 – 26 May 1552)[1] was a German cartographer and cosmographer. He also was a Christian Hebraist scholar who taught as a professor at the University of Basel. His well-known work, the highly accurate world map, Cosmographia, sold well and went through 24 editions. Its influence was widely spread by a production of woodcuts...

 

Associazione Sportiva Dilettantistica Mozzanica 2017-2018

Voce principale: Associazione Sportiva Dilettantistica Mozzanica. A.S.D. MozzanicaStagione 2017-2018Sport calcio Squadra Mozzanica Allenatore Elio Garavaglia Serie A5º posto Coppa ItaliaTerzo turno Maggiori presenzeCampionato: 5 calciatrici[1] (22)Totale: 3 calciatrici[2] (26) Miglior marcatoreCampionato: Alborghetti (10)Totale: Alborghetti (13) StadioStadio comunale di Mozzanica 2016-2017 2018-2019 Si invita a seguire il modello di voce Questa voce raccoglie le informa...

Peter Gallagher

Artikel atau sebagian dari artikel ini mungkin diterjemahkan dari Peter Gallagher di en.wikipedia.org. Isinya masih belum akurat, karena bagian yang diterjemahkan masih perlu diperhalus dan disempurnakan. Jika Anda menguasai bahasa aslinya, harap pertimbangkan untuk menelusuri referensinya dan menyempurnakan terjemahan ini. Anda juga dapat ikut bergotong royong pada ProyekWiki Perbaikan Terjemahan. (Pesan ini dapat dihapus jika terjemahan dirasa sudah cukup tepat. Lihat pula: panduan penerjem...

 

Козёл отпущения

У этого термина существуют и другие значения, см. Козёл отпущения (значения). «Козёл отпущения». Картина Вильяма Хольмана Ханта, 1854 Козёл отпуще́ния (иначе назывался «Азазель»[1][2][3]) — в иудаизме особое животное, которое, после символического возложения на ...

 

加尔旺

此條目可参照外語維基百科相應條目来扩充。若您熟悉来源语言和主题，请协助参考外语维基百科扩充条目。请勿直接提交机械翻译，也不要翻译不可靠、低品质内容。依版权协议，译文需在编辑摘要注明来源，或于讨论页顶部标记{{Translated page}}标签。 加尔旺Galvão市镇加尔旺在巴西的位置坐标：26°27′18″S 52°41′09″W / 26.455°S 52.6858°W / -26.455; -52.6858国家...

Matt Duffy (baseball, born 1989)

American baseball player For the Kansas City Royals player, see Matt Duffy. Baseball player Matt DuffyDuffy batting for the Houston Astros in 2015 Spring TrainingThird baseman / First basemanBorn: (1989-02-06) February 6, 1989 (age 35)Milton, MassachusettsBatted: RightThrew: RightProfessional debutMLB: September 16, 2015, for the Houston AstrosNPB: March 31, 2017, for the Chiba Lotte MarinesLast appearanceMLB: April 9, 2016, for the Houston As...

 

2017 GoPro Grand Prix of Sonoma

2017 SonomaRace details17th round of the 2017 IndyCar Series seasonDateSeptember 17, 2017Official nameGoPro Grand Prix of SonomaLocationSonoma RacewayCoursePermanent racing facility2.2 mi / 3.5 kmDistance85 laps195.755 mi / 315.037 kmPole positionDriverJosef Newgarden (Team Penske)Time1:15.5205PodiumFirstSimon Pagenaud (Team Penske)SecondJosef Newgarden (Team Penske)ThirdWill Power (Team Penske)Motor car race The 2017 GoPro Grand Prix of Sonoma was the 17th and final...

 

A Christmas Carol (1988 play)

1988 one-man stage performance A Christmas CarolWindow card for originalBroadway production, 1991Written byCharles Dickens Adapted by Patrick StewartBased onA Christmas Carolby Charles DickensDate premiered1987Place premieredMirfield, West YorkshireOriginal languageEnglishGenreDrama/Monodrama A Christmas Carol is a one-man stage performance by English actor Patrick Stewart of the Charles Dickens 1843 novella of the same title, which has been performed in the United Kingdom and the United Stat...

USS LST-970

History United States NameLST-970 BuilderBethlehem-Hingham Shipyard, Hingham, Massachusetts Yard number3440[1] Laid down14 November 1944 Launched16 December 1944 Commissioned13 January 1945 Decommissioned10 July 1946 Stricken15 August 1946 Identification Hull symbol: LST-970 Code letters: NKIT Honors andawards 1 × battle star FateSold for operations, 25 April 1947 United States NameNew York Owner American Overseas Chartering Trailerships, Inc. RouteNew York City to Albany, New York ...

 

Julien Temple

British film and music video director Julien TempleTemple at a film festival in Mexico in March 2010BornJulien Temple (1953-11-26) 26 November 1953 (age 70)[1]Kensington, London, EnglandOccupationDirectorSpouseAmanda TempleChildren3, including Juno TempleRelativesNina Temple (sister)Websitewww.julientemple.com Julien Temple (born 26 November 1953) is a British film, documentary and music video director.[1] He began his career with short films featuring the Sex Pistols, an...