D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783...

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Detalles Bibliográficos
Autores principales: Phillips, E., Sasarman, F., Sinasac, D.S., Al-Hertani, W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580329/
https://www.ncbi.nlm.nih.gov/pubmed/31431883
http://dx.doi.org/10.1016/j.ymgmr.2019.100482
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author Phillips, E.
Sasarman, F.
Sinasac, D.S.
Al-Hertani, W.
author_facet Phillips, E.
Sasarman, F.
Sinasac, D.S.
Al-Hertani, W.
author_sort Phillips, E.
collection PubMed
description D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783.4):c.(292 + 1_293–1)_(*847_?)del). This case expands on the reported phenotype, with speech delay being the prominent clinical finding and despite identifying a large deletion in the D2HGDH gene, the patient presents with the mild phenotype.
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spelling pubmed-65803292019-08-20 D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene Phillips, E. Sasarman, F. Sinasac, D.S. Al-Hertani, W. Mol Genet Metab Rep Short Communication D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in D2HGDH (NG_012012.1(NM_152783.4):c.(292 + 1_293–1)_(*847_?)del). This case expands on the reported phenotype, with speech delay being the prominent clinical finding and despite identifying a large deletion in the D2HGDH gene, the patient presents with the mild phenotype. Elsevier 2019-06-13 /pmc/articles/PMC6580329/ /pubmed/31431883 http://dx.doi.org/10.1016/j.ymgmr.2019.100482 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Phillips, E.
Sasarman, F.
Sinasac, D.S.
Al-Hertani, W.
D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title_full D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title_fullStr D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title_full_unstemmed D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title_short D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
title_sort d-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the d2hgdh gene
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6580329/
https://www.ncbi.nlm.nih.gov/pubmed/31431883
http://dx.doi.org/10.1016/j.ymgmr.2019.100482
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