H01996 | |
H number | H01996 |
Name | Pyruvate dehydrogenase phosphatase deficiency |
Description | Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 gene result in lactic acidemia, progressive neurodegeneration, and seizure activity, culminating in early death. |
Category | Inherited metabolic disorder |
Network | - |
Gene | PDP1 [HSA:54704] [KO:K01102] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C53.02 ICD-10: E74.4 MeSH: C536258 OMIM: 608782 |
Reference | PMID:16574315 AUTHORS Maj MC, Cameron JM, Robinson BH TITLE Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? JOURNAL Mol Cell Endocrinol 249:1-9 (2006) DOI:10.1016/j.mce.2006.02.003 PMID:19184109 AUTHORS Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH TITLE Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. JOURNAL Hum Genet 125:319-26 (2009) DOI:10.1007/s00439-009-0629-6 PMID:15855260 AUTHORS Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM TITLE Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. JOURNAL J Clin Endocrinol Metab 90:4101-7 (2005) DOI:10.1210/jc.2005-0123 |