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

Anaplastic thyroid cancer (ATC) is a rare malignancy that accounts for 1%–2% of all thyroid
cancers. ATC is one of the most aggressive human cancers, with rapid growth, tumor …

GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway.
Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1)…

Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy
(PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway. In this …

Astrocytes play a pivotal role in neuronal network development. Despite the well-known role
of astrocytes in the pathophysiology of neurologic disorders, the utilization of human …

… This themed issue of the Journal of Inherited Metabolic Disease kicks off with a contribution
from Imke Schuurmans et al3 in which a literature-based up-to-date genetic landscape of …

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents
with acute encephalopathic crises before 2 years of age. The authors report two previously …

Glutaric aciduria type I usually presents with an acute metabolic crisis during infancy. The
authors report a previously healthy 19-year-old woman who presented with recurrent …

Glutaric aciduria type I (GA-I) is an autosomal recessive disease caused by a deficiency of
the mitochondrial enzyme glutaryl CoA dehydrogenase (GCDH). This metabolic block causes …

Background Chronic medical conditions (CMCs) often emerge and accumulate during the
transition from mid- to late-life, and the resulting multimorbidity can greatly impact physical …