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: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
|
| 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 |
| Summary: | 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. |
|---|---|
| ISSN: | 0972-2327 1998-3549 |