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 …

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 …

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 …

Although individual rare disorders are uncommon, it is estimated that, together, 6000+
known rare diseases affect more than 30 million people in Europe, and present a substantial …

BACKGROUND: Although extended newborn screening (NBS) programs have been
introduced more than 20 years ago, their impact on the long-term clinical outcome of …

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

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

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 …

Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by
deficiencies in enzymes involved in amino acid degradation, which result in accumulation of …

Glutaric aciduria type I (GA-I, OMIM# 231670) is an autosomal recessive inborn error of
metabolism caused by deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase …