Glutaric Acidemia type 1
Glutaric Aciduria type 1; Glutaryl-CoA dehydrogenase deficiency
Inheritance:
Autosomal recessive
Inheritance from both parents will result in the disease
Age range at onset:
Mostly infancy or early childhood
Specialists you may see:
Symptoms
The symptoms of glutaric acidemia type 1 are highly variable. Most of those affected develop symptoms in infancy, although some do not show signs until adolescence or adulthood. Stress caused by fever or infection increases can cause symptoms to worsen irreversibly in encephalopathic crises.
Some are born with macrocephaly (abnormally large head) and large fontanelles. Difficulties with movement including seizures and rigidity may occur, as well as hypotonia. Bleeding in the brain or eyes may happen – this can be mistaken for effects of child abuse.
Management of symptoms and prevention of crises is possible, with life expectancy dependent on timely diagnosis and treatment.
Cause
The GCDH gene, responsible for making an enzyme which produces amino acids, is mutated in those with this condition. The
malfunctioning of the gene causes a build up in these amino acids, particularly when the body is under stress, causing damage to the brain and particularly to the basal ganglia, producing the symptoms above.
News, research and treatment
If treatment is started before symptoms begin, over 80% of those with Glutaric Acidemia type 1 will not go on to develop symptoms, as long as treatment is followed properly. This includes a strict diet.
Emergency treatment guidelines