Glutaric acidemia type II
Autor: cassiano figueiredo neto | Publicado: 2011-07-27T08:04:00-07:00

&nbsp;Glutaric acidemia type II&nbsp;What is 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).
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.How common is glutaric acidemia type II?Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups.What genes are related to glutaric acidemia type II?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.
Read more about the ETFA, ETFB, and ETFDH genes.How do people inherit glutaric acidemia type II?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.Where can I find information about diagnosis, management, or treatment of glutaric acidemia type II?These resources address the diagnosis or management of glutaric acidemia type II and may include treatment providers.
Gene Tests: Multiple Acyl-CoA Dehydrogenase Deficiency
You might also find information on the diagnosis or management of glutaric acidemia type II in Educational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.Where can I find additional information about glutaric acidemia type II?You may find the following resources about glutaric acidemia type II helpful. These materials are written for the general public.
MedlinePlus - Health information (2 links)
Educational resources - Information pages (2 links)
Patient support - For patients and families (4 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Tests - DNA tests ordered by healthcare professionals
PubMed - Recent literature
OMIM - Genetic disorder catalog
What other names do people use for glutaric acidemia type II?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
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.What if I still have specific questions about glutaric acidemia type II?Ask the Genetic and Rare Diseases Information Center.Where can I find general information about genetic conditions?The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family? 
What are the different ways in which a genetic condition can be inherited? 
If a genetic disorder runs in my family, what are the chances that my children will have the condition? 
Why are some genetic conditions more common in particular ethnic groups? 
These links provide additional genetics resources that may be useful.
Genetics and health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding glutaric acidemia type II?acidosis&nbsp;; acids&nbsp;; aciduria&nbsp;; autosomal&nbsp;; autosomal&nbsp;recessive&nbsp;; cardiomyopathy&nbsp;; cell&nbsp;; CoA&nbsp;; cysts&nbsp;; deficiency&nbsp;; dehydrogenase&nbsp;; dilated&nbsp;; electron&nbsp;; enzyme&nbsp;; fatty&nbsp;acids&nbsp;; gene&nbsp;; hypoglycemia&nbsp;; incidence&nbsp;; kidney&nbsp;; malformation&nbsp;; mitochondria&nbsp;; mutation&nbsp;; newborn&nbsp;screening&nbsp;; oxidation&nbsp;; protein&nbsp;; recessive&nbsp;; screening&nbsp;; sign&nbsp;; stress&nbsp;; subunit&nbsp;; symptom&nbsp;; tissue