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

Benjamin Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J. Bennett, W. Edward Highsmith, Kristin D'Aco

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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 compound heterozygote for a known pathogenic mutation (H132Q) and a novel variant of unknown significance (S222N), with nearly absent erythrocyte GALT enzyme activity but normal biomarkers and only mild anxiety despite diet non-adherence. This case is similar to a previously reported S135L mutation. In this report we investigate the novel S222N variant and critically evaluate a clinically puzzling case.

Original languageEnglish (US)
Pages (from-to)61-64
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume2
DOIs
StatePublished - Mar 2015

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Keywords

  • Diagnosis
  • Galactosemia
  • Pathogenesis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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