Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 synonyms
What other names are the Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 known by? Synonyms and other terms with which Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 is known.
Glutaryl-CoA dehydrogenase deficiency, also known as Glutaric aciduria type 1, is a rare genetic disorder that affects the body's ability to break down certain amino acids. This condition is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase, which is responsible for the metabolism of the amino acids lysine, hydroxylysine, and tryptophan.
Glutaryl-CoA dehydrogenase deficiency is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The condition is more commonly found in certain populations, such as the Amish community and individuals of European and Ashkenazi Jewish descent.
Infants with glutaryl-CoA dehydrogenase deficiency may appear healthy at birth, but symptoms typically develop between the ages of three months and three years. The most characteristic feature of this condition is the progressive damage to the basal ganglia, a region of the brain involved in movement control. This can lead to a range of neurological symptoms, including dystonia (involuntary muscle contractions), spasticity (stiffness), and developmental delays.
Other signs and symptoms of glutaryl-CoA dehydrogenase deficiency may include macrocephaly (enlarged head), seizures, feeding difficulties, irritability, and abnormal movements. If left untreated, the condition can lead to permanent brain damage and cognitive impairment.
Diagnosis of glutaryl-CoA dehydrogenase deficiency is typically made through urine organic acid analysis, which can detect elevated levels of glutaric acid and other specific metabolites. Genetic testing can confirm the diagnosis by identifying mutations in the GCDH gene.
Treatment for glutaryl-CoA dehydrogenase deficiency involves a low-lysine diet and the supplementation of carnitine to help remove toxic metabolites. Additionally, close monitoring and early intervention for any neurological symptoms are crucial to prevent further damage.
In summary, glutaryl-CoA dehydrogenase deficiency, or glutaric aciduria type 1, is a rare genetic disorder that affects the metabolism of certain amino acids. It can lead to progressive brain damage and neurological symptoms if left untreated. Early diagnosis and appropriate management are essential for improving outcomes in affected individuals.
