3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation
Annals of Indian Academy of Neurology, cilt.24, sa.3, ss.372-378, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 24 Sayı: 3
- Basım Tarihi: 2021
- Doi Numarası: 10.4103/aian.aian_192_20
- Dergi Adı: Annals of Indian Academy of Neurology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
- Sayfa Sayıları: ss.372-378
- Anahtar Kelimeler: HIBCH deficiency, hydroxy-C4 carnitine, Leigh-like disease, valine metabolism
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.