Glutaric aciduria type 1 disease
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Date
2024
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Abstract
Glutaric acidemias are a group of illnesses that cause an elevated excretion of glutaric acid in
the urine. A glutaryl-CoA dehydrogenase deficit leads to lysine, hydroxylysine, and tryptophan
metabolism disorders, including glutaric acidemia type 1 (GA-1). Glutaric acid and 3-
hydroxyglutaric acid build up as a result. Patients who are affected may exhibit acute dystonia
due to striatal degeneration, brain shrinkage, and macrocephaly. Usually, a pediatric illness that
is concurrently causing fever between the ages of 6 and 18 months is the cause of these
symptoms. Elevated glutaryl (C5DC) carnitine can be utilized to detect this problem during
neonatal screening. Urine's acylcarnitine profile typically peaks at glutaryl carnitine, whereas an
excess of 3-OH-glutaric acid is found in the urine's organic acid analysis.
The pre-symptomatic start of metabolic treatment, which includes a low-lysine diet, carnitine
supplementation, and more intensive emergency care during catabolic episodes, is contingent
upon newborn screening. These interventions together have significantly improved neurological
outcomes. On the other hand, motor dysfunction already present due to striatal injury can’t be
corrected by starting treatment after symptoms appear. Following the onset of striatal damage
vulnerability, which occurs at age 6, dietary treatment can be loosened. It is still unknown,
though, how dietary relaxation would affect long-term results.
Description
Keywords
glutaric acidemia, macrocephaly, glutaryl-CoA dehydrogenase, dystonia, (C5DC), Newborn screening, carnitine, striatal damage.