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Genetic and Rare Diseases Information Center (GARD)

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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

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

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.
Your Questions Answered
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2 question(s) from the public on Glutaric acidemia type II have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Glutaric acidemia type II. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.¬†
  • Orphanet is a European reference portal for¬†information on rare diseases and orphan drugs.¬† Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glutaric acidemia type II. Click on the link to view a sample search on this topic.

Insurance Issues

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.