Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I

Clin Chem. 2023 Apr 3;69(4):431-432. doi: 10.1093/clinchem/hvac212.

Authors

Parith Wongkittichote^{1

2}, Andrew Edmondson², Xinying Hong¹

Affiliations

¹ Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
² Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

PMID: 37011002
DOI: 10.1093/clinchem/hvac212

No abstract available

MeSH terms

Amino Acid Metabolism, Inborn Errors* / diagnosis
Amino Acid Metabolism, Inborn Errors* / genetics
Brain Diseases, Metabolic*
Glutaryl-CoA Dehydrogenase / deficiency
Glutaryl-CoA Dehydrogenase / genetics
Humans
Infant, Newborn
Thymine

Substances

Thymine
Glutaryl-CoA Dehydrogenase

Supplementary concepts

Glutaric Acidemia I