Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …

Rare diseases, such as inherited metabolic diseases, have been identified as a health
priority within the European Union more than 20 years ago and have become an integral …

Background The clinical presentation of patients with organic acidurias (OAD) and urea
cycle disorders (UCD) is variable; symptoms are often non‐specific. Aims/methods To …

Background The disease course and long-term outcome of patients with organic acidurias
(OAD) and urea cycle disorders (UCD) are incompletely understood. Aims To evaluate the …

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism
caused by pathogenic gene variations in GCDH (cytogenic location: 19p13. 13), resulting in …

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria.
Untreated patients characteristically develop dystonia during infancy resulting in a high …

In many European countries neonatal screening has been introduced over the last 50 years
as an important public health programme. Depending on health care structure, available …

Background National newborn screening programmes based on tandem-mass spectrometry
(MS/MS) and other newborn screening (NBS) technologies show a substantial variation in …

Objective: To evaluate the effect of treatment according to current evidence‐based
recommendations on the neurological outcome of patients with glutaric aciduria type I (GA …

Abstract Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by
pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase …