Branched Chain Ketoacid Dehydrogenase Kinase deficit disease
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| BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) deficit disease | |
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| Leucine (pictured above), Isoleucine, and valine are the branched-chain amino acids used to treat BCKDK deficit | |
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BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) deficit disease is a recessive metabolic disorder affecting branched-chain amino acids.
Description[edit]
Novarino et al. [1] studied mutations in the BCKDK (Branched Chain Ketoacid Dehidrogenase Kinase) gene in patients presenting (autism, intellectual disability and epilepsy). Investigation with BCKDK knockout mice showed neurobehavioral deficit, which improved with BCAA suplmentation.
Later on, García-Cazorla, Oyarzabal et al. [2] confirmed that BCKDK mutations can result in neurobehavioral deficits in humans and support the rationale for dietary intervention. In their 2013 study, they found out BCAA (leucine, isoleucine, and valine) supplementation every 5 hours plus an hiperproteic diet showed significant improvement for BCKDK deficit disease patients.
Ongoing studies, not yet published, may indicate a greater improvement if the supplementation is administrated every 3 hours.[citation needed]
Signs and symptoms[edit]
BCKDK deficit disease symptoms may include (autism, intellectual disability and developmental delay).
Prevalence[edit]
According to Garcia-Cazorla (2020), there are currently 21 documented cases worldwide[citation needed]
This article "Branched Chain Ketoacid Dehydrogenase Kinase deficit disease" is from Wikipedia. The list of its authors can be seen in its historical and/or the page Edithistory:Branched Chain Ketoacid Dehydrogenase Kinase deficit disease. Articles copied from Draft Namespace on Wikipedia could be seen on the Draft Namespace of Wikipedia and not main one.
- ↑ Novarino, Gaia; El-Fishawy, Paul; Kayserili, Hulya; Meguid, Nagwa A.; Scott, Eric M.; Schroth, Jana; Silhavy, Jennifer L.; Kara, Majdi; Khalil, Rehab O.; Ben-Omran, Tawfeg; Ercan-Sencicek, A. Gulhan; Hashish, Adel F.; Sanders, Stephan J.; Gupta, Abha R.; Hashem, Hebatalla S.; Matern, Dietrich; Gabriel, Stacey; Sweetman, Larry; Rahimi, Yasmeen; Harris, Robert A.; State, Matthew W.; Gleeson, Joseph G. (2012). "Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy". Science. 338 (6105). pp. 394–397. doi:10.1126/science.1224631. Retrieved 2022-08-28.
- ↑ García-Cazorla, A.; Oyarzabal, A.; Fort, J.; Robles, C.; Castejón, E.; Ruiz-Sala, P.; Bodoy, S.; Merinero, B.; Lopez-Sala, A.; Dopazo, J.; Nunes, V.; Ugarte, M.; Artuch, R.; Palacín, M.; Rodríguez-Pombo, P.; Alcaide, P.; Navarrete, R.; Sanz, P.; Font-Llitjós, M.; Vilaseca, M. A.; Ormaizabal, A.; Pristoupilova, A.; Agulló, S. B. (2014). "Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients". Wiley online library. 35 (4). pp. 470–477. doi:10.1002/humu.22513. PMID 24449431. Retrieved 2022-08-28.
