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

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 def...

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Autores principales: Karimzadeh, Parvaneh, Saberi, Mohammad, Sheidaee, Kobra, Nourbakhsh, Mitra, Keramatipour, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389474/
https://www.ncbi.nlm.nih.gov/pubmed/30847210
http://dx.doi.org/10.1002/ccr3.1998
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author Karimzadeh, Parvaneh
Saberi, Mohammad
Sheidaee, Kobra
Nourbakhsh, Mitra
Keramatipour, Mohammad
author_facet Karimzadeh, Parvaneh
Saberi, Mohammad
Sheidaee, Kobra
Nourbakhsh, Mitra
Keramatipour, Mohammad
author_sort Karimzadeh, Parvaneh
collection PubMed
description 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.
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spelling pubmed-63894742019-03-07 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations Karimzadeh, Parvaneh Saberi, Mohammad Sheidaee, Kobra Nourbakhsh, Mitra Keramatipour, Mohammad Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-01-15 /pmc/articles/PMC6389474/ /pubmed/30847210 http://dx.doi.org/10.1002/ccr3.1998 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Karimzadeh, Parvaneh
Saberi, Mohammad
Sheidaee, Kobra
Nourbakhsh, Mitra
Keramatipour, Mohammad
3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title_full 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title_fullStr 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title_full_unstemmed 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title_short 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
title_sort 3‐hydroxyisobutyryl‐coa hydrolase deficiency in an iranian child with novel hibch compound heterozygous mutations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389474/
https://www.ncbi.nlm.nih.gov/pubmed/30847210
http://dx.doi.org/10.1002/ccr3.1998
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