Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo purine synthesis and purine nucleotide recycling. The...

Full description

Bibliographic Details
Main Authors: Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Metabolomic profiling
ADSL deficiency
Intellectual disability
Succinyladenosine
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300556

Internet

http://www.sciencedirect.com/science/article/pii/S2214426916300556

Similar Items