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Xu, C. Glutaric Acidemia Type II. Encyclopedia. Available online: https://encyclopedia.pub/entry/4025 (accessed on 29 September 2026).
Xu C. Glutaric Acidemia Type II. Encyclopedia. Available at: https://encyclopedia.pub/entry/4025. Accessed September 29, 2026.
Xu, Camila. "Glutaric Acidemia Type II" Encyclopedia, https://encyclopedia.pub/entry/4025 (accessed September 29, 2026).
Xu, C. (2020, December 23). Glutaric Acidemia Type II. In Encyclopedia. https://encyclopedia.pub/entry/4025
Xu, Camila. "Glutaric Acidemia Type II." Encyclopedia. Web. 23 December, 2020.
Glutaric Acidemia Type II
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii

Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

genetic conditions

References

  1. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008 Jan;93(1):36-9.
  2. Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QOvariations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet. 2012 Aug 1;21(15):3435-48. doi: 10.1093/hmg/dds175.
  3. Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH,Andresen BS, Gregersen N. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab. 2003 Apr;78(4):247-9.
  4. Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II:gene structure and mutations of the electron transfer flavoprotein:ubiquinoneoxidoreductase (ETF:QO) gene. Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90.
  5. Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clearrelationship between ETF/ETFDH genotype and phenotype in patients with multipleacyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23.
  6. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B,Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E,Gregersen N, Turnbull DM, Morris AA. ETFDH mutations as a major cause ofriboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007Aug;130(Pt 8):2045-54.
  7. Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. Lipid-storage myopathy and respiratory insufficiency due to ETFQOmutations in a patient with late-onset multiple acyl-CoA dehydrogenationdeficiency. J Inherit Metab Dis. 2004;27(5):671-8.
  8. Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T,Yamaguchi S. Molecular study of electron transfer flavoprotein alpha-subunitdeficiency in two Japanese children with different phenotypes of glutaricacidemia type II. Eur J Clin Invest. 2002 Sep;32(9):707-12.
  9. Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Electrontransfer flavoprotein deficiency: functional and molecular aspects. Mol GenetMetab. 2006 Jun;88(2):153-8.
  10. Takken T, Custers J, Visser G, Dorland L, Helders P, de Koning T. Prolongedexercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenasedeficiency. Nutr Metab (Lond). 2005 May 20;2(1):12.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 682
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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