Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro-developmental symptoms. We present a teenage compoun...

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Bibliographic Details
Main Authors: Benjamin Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J. Bennett, W. Edward Highsmith, Kristin D'Aco
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Galactosemia
Pathogenesis
Diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000834

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