3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation
Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Methods: HIBCH gene analysis was performed in all cases...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=372;epage=378;aulast=Cakar |
| _version_ | 1831762115469246464 |
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| author | Nafiye Emel Çakar Orhan Görükmez |
| author_facet | Nafiye Emel Çakar Orhan Görükmez |
| author_sort | Nafiye Emel Çakar |
| collection | DOAJ |
| description | Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Methods: HIBCH gene analysis was performed in all cases. Results: The common features of our five patients from the same family with a developmental delay, seizures, and neurological regression were the elevation of 3-hydroxy-isobutyryl-carnitine and Leigh-like abnormalities. Unlike other patients in the literature, our patients were diagnosed with HIBCH gene analysis, rather than whole exome sequencing (WES). In all our cases, a missense c.452C>T, p. Ser151Leu homozygous novel pathogenic mutation was detected in the HIBCH gene. Conclusion: In cases where HIBCH deficiency is considered in our differential diagnosis algorithm, HIBCH gene analysis, which is cost-effective, should be performed instead of WES, and the number of cases should be increased in the literature. |
| first_indexed | 2024-12-22T05:01:13Z |
| format | Article |
| id | doaj.art-74db4053e6fb4c2795db2a21837fc712 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-22T05:01:13Z |
| publishDate | 2021-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-74db4053e6fb4c2795db2a21837fc7122022-12-21T18:38:15ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492021-01-0124337237810.4103/aian.AIAN_192_203-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutationNafiye Emel ÇakarOrhan GörükmezObjective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Methods: HIBCH gene analysis was performed in all cases. Results: The common features of our five patients from the same family with a developmental delay, seizures, and neurological regression were the elevation of 3-hydroxy-isobutyryl-carnitine and Leigh-like abnormalities. Unlike other patients in the literature, our patients were diagnosed with HIBCH gene analysis, rather than whole exome sequencing (WES). In all our cases, a missense c.452C>T, p. Ser151Leu homozygous novel pathogenic mutation was detected in the HIBCH gene. Conclusion: In cases where HIBCH deficiency is considered in our differential diagnosis algorithm, HIBCH gene analysis, which is cost-effective, should be performed instead of WES, and the number of cases should be increased in the literature.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=372;epage=378;aulast=Cakarhibch deficiencyhydroxy-c4 carnitineleigh-like diseasevaline metabolism |
| spellingShingle | Nafiye Emel Çakar Orhan Görükmez 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation Annals of Indian Academy of Neurology hibch deficiency hydroxy-c4 carnitine leigh-like disease valine metabolism |
| title | 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation |
| title_full | 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation |
| title_fullStr | 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation |
| title_full_unstemmed | 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation |
| title_short | 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation |
| title_sort | 3 hydroxyisobutyryl coa hydrolase hibch deficiency cases diagnosed by only hibch gene analysis and novel pathogenic mutation |
| topic | hibch deficiency hydroxy-c4 carnitine leigh-like disease valine metabolism |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=372;epage=378;aulast=Cakar |
| work_keys_str_mv | AT nafiyeemelcakar 3hydroxyisobutyrylcoahydrolasehibchdeficiencycasesdiagnosedbyonlyhibchgeneanalysisandnovelpathogenicmutation AT orhangorukmez 3hydroxyisobutyrylcoahydrolasehibchdeficiencycasesdiagnosedbyonlyhibchgeneanalysisandnovelpathogenicmutation |