Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic.

Detalles Bibliográficos
Autores principales: Carmant, Laurence, Karalis, Aspasia, Rypens, Françoise, Oligny, Luc, Wavrant, Sandrine, Lapeyraque, Anne‐Laure, Codsi, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981664/
https://www.ncbi.nlm.nih.gov/pubmed/33768790
http://dx.doi.org/10.1002/ccr3.3663
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author Carmant, Laurence
Karalis, Aspasia
Rypens, Françoise
Oligny, Luc
Wavrant, Sandrine
Lapeyraque, Anne‐Laure
Codsi, Elisabeth
author_facet Carmant, Laurence
Karalis, Aspasia
Rypens, Françoise
Oligny, Luc
Wavrant, Sandrine
Lapeyraque, Anne‐Laure
Codsi, Elisabeth
author_sort Carmant, Laurence
collection PubMed
description We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic.
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spelling pubmed-79816642021-03-24 Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping Carmant, Laurence Karalis, Aspasia Rypens, Françoise Oligny, Luc Wavrant, Sandrine Lapeyraque, Anne‐Laure Codsi, Elisabeth Clin Case Rep Case Reports We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic. John Wiley and Sons Inc. 2021-01-12 /pmc/articles/PMC7981664/ /pubmed/33768790 http://dx.doi.org/10.1002/ccr3.3663 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Carmant, Laurence
Karalis, Aspasia
Rypens, Françoise
Oligny, Luc
Wavrant, Sandrine
Lapeyraque, Anne‐Laure
Codsi, Elisabeth
Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title_full Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title_fullStr Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title_full_unstemmed Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title_short Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
title_sort prenatal presentation of glutaric aciduria type ii: a case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981664/
https://www.ncbi.nlm.nih.gov/pubmed/33768790
http://dx.doi.org/10.1002/ccr3.3663
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