Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Jan 15;7(2):375-380.
doi: 10.1002/ccr3.1998. eCollection 2019 Feb.

3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

Parvaneh Karimzadeh  1 , Mohammad Saberi  2 , Kobra Sheidaee  1 , Mitra Nourbakhsh  3 , Mohammad Keramatipour  2
Affiliations
Case Reports

3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

Parvaneh Karimzadeh et al. Clin Case Rep. .

Abstract

We report a patient presenting with developmental delay, Leigh-like abnormalities on MRI and elevated 3-hydroxyisovaleric acid levels. Upon whole-exome sequencing, he was diagnosed with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, and hence subjected to specific dietary treatment. HIBCH deficiency should be considered in the differential diagnosis of Leigh-like disease and/or organic aciduria.

Keywords: HIBCH deficiency; Leigh‐like disease; isovaleric acidemia; mitochondrial disorders; valine metabolism.

PubMed Disclaimer

Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
Brain MRI at age 2 y showed bilateral high signal lesions in the globus pallidus
Figure 2
Figure 2
Sanger sequencing chromatograms of the HIBCH mutated regions in the patient (top) showing the heterozygous c.641C>T (A) and c.913A>G (B) variants, the patient's father (middle) showing the heterozygous c.641C>T variant (A) and the normal homozygous c.913A (B), and the patient's mother (bottom) showing the normal homozygous c.641C (A) and the heterozygous c.913A>G variant (B)
Figure 3
Figure 3
A summary of valine metabolism, highlighting the role of short‐chain enoyl‐CoA hydratase (SCEH) and 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH)
See this image and copyright information in PMC

References

    1. Rahman S, Hanna M. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry. 2009;80(9):943‐953. - PubMed
    1. Chrzanowska‐Lightowlers ZM, Horvath R, Lightowlers RN. 175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25‐27th June 2010, Naarden, The Netherlands. Neuromuscul Disord. 2011;21(2):142‐147. - PubMed
    1. Manoli I, Venditti CP. Disorders of branched chain amino acid metabolism. Transl Sci Rare Dis. 2016;1(2):91‐110. - PMC - PubMed
    1. Wanders RJ, Duran M, Loupatty FJ. Enzymology of the branched‐chain amino acid oxidation disorders: the valine pathway. J Inherit Metab Dis. 2012;35(1):5‐12. - PMC - PubMed
    1. Stiles AR, Ferdinandusse S, Besse A, et al. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab. 2015;115(4):161‐167. - PMC - PubMed

Publication types

LinkOut - more resources