What is glutaric aciduria?
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can’t process certain amino acids (“building blocks” of protein), causing a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods like meat and fish into amino acids.
How do you test for glutaric aciduria?
In patients with signs and symptoms of glutaric aciduria type I, a specific diagnostic work-up should include quantitative analysis of GA and 3-OH-GA in urine or blood, GCDH gene mutation analysis, and/or enzyme analysis (grade D).
What causes glutaric acidemia?
Mutations in the GCDH gene cause glutaric acidemia type I. The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.
What is glutaric aciduria type 2?
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).
How is glutaric acidemia treated?
Glutaric aciduria type II is treated with a high carbohydrate, low protein and low fat diet. It is recommended that affected individuals eat often to avoid low blood sugar. Dietary supplementation with riboflavin, carnitine & other supplements may be helpful.
What disease is GA?
Granuloma annulare (GA) is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring.
What enzyme breaks down glutaric acid?
In glutaric acidemia, type 1 (GA-1) the enzyme “glutaryl-CoA dehydrogenase” is not working correctly. This enzyme’s job is to break down the amino acids lysine, hydroxylysine, and tryptophan. GA-1 occurs when your baby’s body either doesn’t make enough or makes malfunctioning glutaryl-CoA dehydrogenase enzymes.
Is glutaric acidemia fatal?
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.
Is glutaric acidemia hereditary?
Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It is in the group of disorders known as cerebral organic acidemias.
How is glutaric aciduria type 1 diagnosed?
Definitive diagnosis of glutaric aciduria type 1 can be established by DNA-based analysis, looking for mutations in the GCDH gene on chromosome 19 1. MRI is the modality of choice in the assessment of glutaric aciduria type 1.
Is gluataric aciduria a treatable neurometabolic disorder?
CONCLUSIONS Gluataric aciduria type- I is a treatable neurometabolic disorder thatshould be diagnosed early and appropriately treated to have a better outcome.
Is metabolic derangement a hallmark symptom of acute organic aciduria?
Metabolic derangement, which is the hallmark of organic aciduria, is minimal or absent in GA I even during acute episodes. None of our children showed metabolic derangement.