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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2015-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000834 |
| _version_ | 1819111078474285056 |
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| author | Benjamin Cocanougher Umut Aypar Amber McDonald Linda Hasadsri Michael J. Bennett W. Edward Highsmith Kristin D'Aco |
| author_facet | Benjamin Cocanougher Umut Aypar Amber McDonald Linda Hasadsri Michael J. Bennett W. Edward Highsmith Kristin D'Aco |
| author_sort | Benjamin Cocanougher |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T03:51:54Z |
| format | Article |
| id | doaj.art-3fbfef4e4d894c038464ff127327e5fa |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-22T03:51:54Z |
| publishDate | 2015-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-3fbfef4e4d894c038464ff127327e5fa2022-12-21T18:39:59ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-03-012C616410.1016/j.ymgmr.2014.12.004Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical diseaseBenjamin Cocanougher0Umut Aypar1Amber McDonald2Linda Hasadsri3Michael J. Bennett4W. Edward Highsmith5Kristin D'Aco6University of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USAMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAMetabolic Disease Laboratory, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USAMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAUniversity of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USAGalactosemia 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.http://www.sciencedirect.com/science/article/pii/S2214426914000834GalactosemiaPathogenesisDiagnosis |
| spellingShingle | Benjamin Cocanougher Umut Aypar Amber McDonald Linda Hasadsri Michael J. Bennett W. Edward Highsmith Kristin D'Aco 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 Molecular Genetics and Metabolism Reports Galactosemia Pathogenesis Diagnosis |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Galactosemia Pathogenesis Diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S2214426914000834 |
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