Glutaric aciduria type 1 - a rare treatable neurometabolic disorder of lysine metabolism

Glutaric aciduria type 1 (OMIM #231670) is a rare inherited neurometabolic disorder of lysine and tryptophan metabolism. The deficiency of mitochondrial glutaryl-CoA dehydrogenase activity leads to an accumulation of neurotoxic metabolites such as glutaric acid and 3-hydroxyglutaric acid in the body. Most untreated patients develop a dystonic movement disorder due to striatal injury during the first years of life associated with increased morbidity and mortality. However, early diagnosis …