Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

HIBCH (3-Hydroxyisobutyryl-CoA hydrolase) deficiency is a rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in HIBCH and typically presenting in the first year of life with hypotonia, seizures, global developmental delay, poor feeding, and ataxia. Biochemical abnorma...

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Bibliographic Details
Main Authors: Sonali Patel, Muhammad Zain-ul-abideen, Genevieve Guyol, Lance H. Rodan, Casie A. Genetti, Amy Z. Ren, Philip Connors, Patricia Davenport, Ruby Bartolome, Inderneel Sahai, Vijay S. Ganesh, Monica H. Wojcik
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Genomic autopsy
Neonatal
Exome sequencing
HIBCH
Acidosis
Transcriptomic
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000382
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