Definition
Glutaric Acidaemia (GA) is an autosomal recessive hereditary disorder. It is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Accumulation of 5- carbon dicarboxylic acids may impair synthesis of gamma-aminobutyric acid (GABA), which functions as a neurotransmitter in the brain, inhibiting nerve excitation. The severity of glutaric acidemia type I varies widely. Some individuals are only mildly affected; while others experience severe problems.
Diagnosis
Diagnosis happens during newborn screening via the heel prick test. This happens around 48-72 hours after birth.
Prevalence
1:30,000 – 40,000 estimated worldwide.
Treatment of Glutaric Acidaemia (GA)
The treatment of Glutaric Acidaemia consists of a low protein diet aimed at reducing the production of glutaric acid and other intermediate metabolites. The diet involves restricting the intake of natural protein and of lysine specifically and a supplement with lysine-free, low-tryptophan amino acid mixtures to ensure supply of the other amino acids essential for optimal health. The diet should include a high carbohydrate and fat content to provide sufficient calories. Adequate fluid levels should be maintained while vitamin and mineral intake is optimised.
While you’re ill, your treatment will vary and you should contact either your metabolic doctor/dietitian or the 24-hour emergency number provided to you.
Support Links & Materials
OA Fruit and Veg Counting Lists
OA General Protein Counting Lists