U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chronic acidosis

MedGen UID:
760150
Concept ID:
C1735903
Pathologic Function
HPO: HP:0012468

Definition

Longstanding abnormal acid accumulation or depletion of base. [from HPO]

Conditions with this feature

Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.

Professional guidelines

PubMed

Long B, Lentz S, Koyfman A, Gottlieb M
Am J Emerg Med 2021 Jun;44:157-160. Epub 2021 Feb 16 doi: 10.1016/j.ajem.2021.02.015. PMID: 33626481
Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Recent clinical studies

Etiology

Vyas P, Crispen PL
Curr Opin Urol 2014 Nov;24(6):614-8. doi: 10.1097/MOU.0000000000000114. PMID: 25203244
Han SH, Han DS
Nat Rev Nephrol 2012 Feb 7;8(3):163-75. doi: 10.1038/nrneph.2012.12. PMID: 22310948
Stehman-Breen C
Semin Nephrol 2004 Jan;24(1):78-81. doi: 10.1053/j.semnephrol.2003.08.013. PMID: 14730513
Whitford GM
Ciba Found Symp 1997;205:226-41; discussion 241-5. doi: 10.1002/9780470515303.ch16. PMID: 9189628
Wilkins-Haug L
Teratology 1997 Feb;55(2):145-51. doi: 10.1002/(SICI)1096-9926(199702)55:2<145::AID-TERA5>3.0.CO;2-2. PMID: 9143096

Diagnosis

Rolver MG, Holland LKK, Ponniah M, Prasad NS, Yao J, Schnipper J, Kramer S, Elingaard-Larsen L, Pedraz-Cuesta E, Liu B, Pardo LA, Maeda K, Sandelin A, Pedersen SF
Int J Cancer 2023 Apr 15;152(8):1668-1684. Epub 2023 Jan 2 doi: 10.1002/ijc.34404. PMID: 36533672Free PMC Article
Vyas P, Crispen PL
Curr Opin Urol 2014 Nov;24(6):614-8. doi: 10.1097/MOU.0000000000000114. PMID: 25203244
Stehman-Breen C
Semin Nephrol 2004 Jan;24(1):78-81. doi: 10.1053/j.semnephrol.2003.08.013. PMID: 14730513
Arnett T
Proc Nutr Soc 2003 May;62(2):511-20. doi: 10.1079/pns2003268. PMID: 14506899
Mendelson IS, Christie E, Zaleski WA, MacKenzie SL, Wellner VP, Meister A
J Inherit Metab Dis 1983;6(1):44-8. doi: 10.1007/BF02391193. PMID: 6408309

Therapy

Vyas P, Crispen PL
Curr Opin Urol 2014 Nov;24(6):614-8. doi: 10.1097/MOU.0000000000000114. PMID: 25203244
Stehman-Breen C
Semin Nephrol 2004 Jan;24(1):78-81. doi: 10.1053/j.semnephrol.2003.08.013. PMID: 14730513
Whitford GM
Ciba Found Symp 1997;205:226-41; discussion 241-5. doi: 10.1002/9780470515303.ch16. PMID: 9189628
Wilkins-Haug L
Teratology 1997 Feb;55(2):145-51. doi: 10.1002/(SICI)1096-9926(199702)55:2<145::AID-TERA5>3.0.CO;2-2. PMID: 9143096
Coe FL, Firpo JJ Jr, Hollandsworth DL, Segil L, Canterbury JM, Reiss E
Kidney Int 1975 Oct;8(4):263-73. doi: 10.1038/ki.1975.110. PMID: 1202255

Prognosis

Andreucci E, Peppicelli S, Ruzzolini J, Bianchini F, Biagioni A, Papucci L, Magnelli L, Mazzanti B, Stecca B, Calorini L
J Mol Med (Berl) 2020 Oct;98(10):1431-1446. Epub 2020 Aug 15 doi: 10.1007/s00109-020-01959-y. PMID: 32803272Free PMC Article
Guarnieri G, Zanetti M, Vinci P, Cattin MR, Barazzoni R
J Ren Nutr 2009 Jan;19(1):20-4. doi: 10.1053/j.jrn.2008.11.014. PMID: 19121765
Stehman-Breen C
Semin Nephrol 2004 Jan;24(1):78-81. doi: 10.1053/j.semnephrol.2003.08.013. PMID: 14730513
Fichtner J
Urol Int 1999;63(1):40-5. doi: 10.1159/000030417. PMID: 10592489
Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA
Clin Endocrinol (Oxf) 1995 Oct;43(4):479-90. doi: 10.1111/j.1365-2265.1995.tb02621.x. PMID: 7586624

Clinical prediction guides

Andreucci E, Peppicelli S, Ruzzolini J, Bianchini F, Biagioni A, Papucci L, Magnelli L, Mazzanti B, Stecca B, Calorini L
J Mol Med (Berl) 2020 Oct;98(10):1431-1446. Epub 2020 Aug 15 doi: 10.1007/s00109-020-01959-y. PMID: 32803272Free PMC Article
Vyas P, Crispen PL
Curr Opin Urol 2014 Nov;24(6):614-8. doi: 10.1097/MOU.0000000000000114. PMID: 25203244
Stehman-Breen C
Semin Nephrol 2004 Jan;24(1):78-81. doi: 10.1053/j.semnephrol.2003.08.013. PMID: 14730513
Wilkins-Haug L
Teratology 1997 Feb;55(2):145-51. doi: 10.1002/(SICI)1096-9926(199702)55:2<145::AID-TERA5>3.0.CO;2-2. PMID: 9143096
Mendelson IS, Christie E, Zaleski WA, MacKenzie SL, Wellner VP, Meister A
J Inherit Metab Dis 1983;6(1):44-8. doi: 10.1007/BF02391193. PMID: 6408309

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...