Open AccessPrenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping
Author(s) -
Carmant Laurence,
Karalis Aspasia,
Rypens Françoise,
Oligny Luc,
Wavrant Sandrine,
Lapeyraque AnneLaure,
Codsi Elisabeth
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3663
Subject(s) - glutaric acid , medicine , inborn error of metabolism , presentation (obstetrics) , pathological , prenatal diagnosis , newborn screening , pediatrics , pathology , endocrinology , pregnancy , fetus , radiology , genetics , biochemistry , biology
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.