Glutarazidurie Typ 1: Behandelbare Störung des Lysinstoffwechsels

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 and adherence to recommended metabolic treatment significantly improves neurological long-term outcome.