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 …

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 …

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by
disruption of cellular biochemical functions. Although individual IEMs are rare, collectively …

Lysine degradation via formation of saccharopine is a pathway confined to the mitochondria.
The second pathway for lysine degradation, the pipecolic acid pathway, is not yet fully …

Objective Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a
complex, predominantly dystonic movement disorder (MD) following acute or insidious onset …

Purpose Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a
complex movement disorder (MD) with predominant dystonia if untreated. Implementation …

Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by
response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α …

Abstract Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism
resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal …

Background and aim To describe current diagnostic and therapeutic strategies in organic
acidurias (OADs) and to evaluate their impact on the disease course allowing …