Print friendly version
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 is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. This condition usually appears in infancy or early childhood as a sudden episode of 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 severe cases, affected individuals may be born with physical abnormalities including brain malformations, enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Glutaric acidemia type II is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes.[1]
References
- Glutaric acidemia type II. Genetics Home Reference (GHR). http://www.ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii. Accessed November 14, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Glutaric acidemia type II have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Glutaric acidemia type II. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- 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. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glutaric acidemia type II. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.