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Glutaric acidemia type II


Other Names for this Disease

  • EMA
  • Ethylmalonic-adipicaciduria
  • GA 2
  • Glutaric acidemia 2
  • Glutaric acidemia type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is glutaric acidemia type II?

What are the signs and symptoms of glutaric acidemia type II?

How might glutaric acidemia type II be treated?

What is glutaric acidemia type II?

Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting.[1] GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes.[1] Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.[2]
Last updated: 8/16/2013

What are the signs and symptoms of glutaric acidemia type II?

Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body.

The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities 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. Some affected individuals have a characteristic odor resembling sweaty feet.

Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder.[3]
Last updated: 8/16/2013

How might glutaric acidemia type II be treated?

The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended:[4]

    -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises.
    -A low-fat, low-protein, high-carbohydrate diet may be advised.
    -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy.
    -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis.

Last updated: 8/16/2013

References
  1. Glutaric acidemia type II. Genetics Home Reference (GHR). July 2008; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed 11/14/2011.
  2. Glutaricaciduria II. NORD. May 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/378/viewAbstract. Accessed 8/16/2013.
  3. Glutaric acidemia type II. Genetics Home Reference. July 2008; http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed 8/16/2013.
  4. Glutaric acidemia, type 2. STAR-G Genetic Fact Sheets For Parents. 2008; http://www.newbornscreening.info/Parents/fattyaciddisorders/GA2.html. Accessed 11/14/2011.


Other Names for this Disease
  • EMA
  • Ethylmalonic-adipicaciduria
  • GA 2
  • Glutaric acidemia 2
  • Glutaric acidemia type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.