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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
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Update Time: 23 Dec 2020

1. Introduction

Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses.

In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet.

Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.

2. Frequency

Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups.

3. Causes

Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase.

Glutaric acidemia type II is caused by a deficiency in either of these two enzymes. Electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase are normally active in the mitochondria, which are the energy-producing centers of cells. These enzymes help break down proteins and fats to provide energy for the body. When one of the enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II.

People with mutations that result in a complete loss of either enzyme produced from the ETFA, ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. Mutations that allow the enzyme to retain some activity may result in milder forms of the disorder.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

  • electron transfer flavoprotein deficiency

  • EMA

  • ETFA deficiency

  • ETFB deficiency

  • ETFDH deficiency

  • ethylmalonic-adipicaciduria

  • GA II

  • glutaric acidemia, type 2

  • glutaric aciduria, type 2

  • MAD

  • MADD

  • multiple acyl-CoA dehydrogenase deficiency

  • multiple FAD dehydrogenase deficiency

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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View Times: 65
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Time: 23 Dec 2020
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    Xu, C. Glutaric Acidemia Type II. Encyclopedia. Available online: https://encyclopedia.pub/entry/4025 (accessed on 02 October 2022).
    Xu C. Glutaric Acidemia Type II. Encyclopedia. Available at: https://encyclopedia.pub/entry/4025. Accessed October 02, 2022.
    Xu, Camila. "Glutaric Acidemia Type II," Encyclopedia, https://encyclopedia.pub/entry/4025 (accessed October 02, 2022).
    Xu, C. (2020, December 23). Glutaric Acidemia Type II. In Encyclopedia. https://encyclopedia.pub/entry/4025
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