Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism - 19/02/15

Doi : 10.1016/j.pediatrneurol.2014.10.023

Claudia Soler-Alfonso, MD ^a,^⁎ , Gregory M. Enns, MB, ChB ^b, Mary Kay Koenig, MD ^c, Heather Saavedra, RD, LD ^a, Eliana Bonfante-Mejia, MD ^d, Hope Northrup, MD ^a
^a Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, Texas
^b Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, California
^c Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center at Houston, Houston, Texas
^d Department of Diagnostic and Interventional Imaging, University of Texas Health Science Center at Houston, Houston, Texas

^∗Communications should be addressed to: Dr. Soler-Alfonso; Department of Pediatrics; Division of Medical Genetics; University of Texas Health Science Center at Houston; Houston, Texas 77030.

Abstract

Background

Leigh syndrome is a progressive neurodegenerative disorder with usual onset of symptoms during the first year of life. The disorder has been associated with mutations in over 30 genes. This difficulty with genetic heterogeneity makes whole exome sequencing a more cost-effective approach for investigation of etiology.

Patient and Results

We describe an individual with typical Leigh syndrome who was found to have compound heterozygous mutations in the gene HIBCH (3-hydroxyisobutyryl coenzyme A hydrolase), an enzyme involved in the catabolism of valine. She exhibited significant clinical improvement after a valine-restricted diet.

Conclusions

A subset of patients with uncharacterized Leigh syndrome present with specific biochemical abnormalities. This report highpoints the challenges and restrictions of routine metabolic testing and features the recognition of inborn errors of metabolism as potential treatable causes of Leigh syndrome.

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Keywords : Leigh syndrome, valine, inborn error of metabolism, HIBCH, whole exome sequencing

Plan

Introduction

Patient and Methods

Patient

Exome and Sanger sequencing

Results

Discussion

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Vol 52 - N° 3

P. 361-365 - mars 2015 Retour au numéro

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Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism - 19/02/15

Abstract

Background

Patient and Results

Conclusions

Plan

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