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 …

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 …

Glutaryl‐CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly
neurological presentation. Biochemically, it is characterized by an accumulation and …

The biosynthetic rates for both the transferrin receptor (TfR) and ferritin are regulated by iron.
An iron-responsive element (IRE) in the 5′ untranslated portion of the ferritin messenger …

Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA
mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal …

Thymidylate synthase (TS; 5, 10-methylenetetrahydrofolate: dUMP C-methyltransferase, EC
2.1. 1.45) is essential for the de novo synthesis of thymidylate, a precursor of DNA. Previous …

X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by
an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia …

Background Many patients remain without a diagnosis despite extensive medical
evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a …

Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-
hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes …