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

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

Abstract 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.

Bibliographic Details
Main Authors: Laurence Carmant, Aspasia Karalis, Françoise Rypens, Luc Oligny, Sandrine Wavrant, Anne‐Laure Lapeyraque, Elisabeth Codsi
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Clinical Case Reports
Subjects:
genetics
obstetrics and gynecology
prenatal diagnosis
Online Access:https://doi.org/10.1002/ccr3.3663

Internet

https://doi.org/10.1002/ccr3.3663

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