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Article

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

American journal of medical genetics. Part A - 1 Apr 2020

D'Gama Alissa M, Brucker William J, Zhang Tian, Gubbels Cynthia S, Ferdinandusse Sacha, Shi Jiahai, Grant Patricia Ellen, VanNoy Grace, Genetti Casie A, Juusola Jane, Yu Timothy W, Kritzer Amy, Agrawal Pankaj B

Abstract excerpt

3-Hydroxyisobutyryl-CoA dehydrogenase (HIBCH) deficiency is a rare error in valine catabolism associated with a Leigh syndrome-like phenotype, mitochondrial dysfunction, and increased C4-OH. We report the most severe case to date in a full-term female who presented with poor feeding and nystagmus on day of life (DOL) 1. Although initial neuroimaging findings were concerning for metabolic disease, further...

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Share to Abnormalities, Multiple
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32022391
DOI: 10.1002/ajmg.a.61498

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