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

Carmant, L.; Karalis, Aspasia; Rypens, Françoise; Oligny, Luc L.; Wavrant, S.; Lapeyraque, Anne-Laure; Codsi, Elisabeth

doi:10.1002/ccr3.3663

Cited by 1 publication

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“…This is consistent with the findings in this study 22. Although no diagnoses were made in our cohort of Glutaric Aciduria Type II (also known as multiple acyl CoA dehydrogenase deficiency), there is the previously published literature which highlights the fact that patients with this disorder can also present prenatally with features including dysplastic kidneys with multiple cysts, facial dysmorphism, rocker‐bottom feet, and abnormal external genitalia 35 …”

Section: Discussionmentioning

confidence: 88%

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

Allen,

Chandler,

Kinning

et al. 2023

Prenatal Diagnosis

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ObjectivesThe value of prenatal exome sequencing (pES) for fetuses with structural anomalies is widely reported. In England, testing is conducted through trio exome sequencing and analysis of a gene panel. Over a 30‐month period testing of 921 pregnancies resulted in a genetic diagnosis in 32.8% of cases (302/921). Here we review cases diagnosed with an inborn error of metabolism.MethodsDiagnoses of inborn errors of metabolism (IEM) were classified according to the ICIMD classification system. Genetic diagnoses were assessed against Human Phenotype Ontology terms, gestation of scan findings and literature evidence.Results35/302 diagnoses (11.6%) represented IEM. Almost half affected metabolism of complex macromolecules and organelles (n = 16), including congenital disorders of glycosylation (n = 8), peroxisome biogenesis disorders (n = 4), and lysosomal storage disorders (n = 4). There were eight disorders of lipid metabolism and transport, the majority being genes in the cholesterol biosynthesis pathway, eight disorders of intermediary metabolism, of which seven were defects in “energy” processes, and two diagnoses of alkaline phosphatase deficiency.ConclusionsReview of pES diagnoses and ultrasound scan findings is key to understanding genotype‐phenotype correlations. IEM are genetically heterogeneous and may present with variable scan findings, which makes an individual diagnosis difficult to suspect. Diagnosis during pregnancy is particularly important for many IEM with respect to prognosis and early neonatal management.

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Section: Discussionmentioning

confidence: 88%

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

Allen,

Chandler,

Kinning

et al. 2023

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

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

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 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.

Cited by 1 publication

References 9 publications

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

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