KEGG   DISEASE: Pyruvate dehydrogenase phosphatase deficiency
Entry
H01996                      Disease                                
Name
Pyruvate dehydrogenase phosphatase deficiency
  Supergrp
Pyruvate dehydrogenase complex deficiency [DS:H00072]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01996  Pyruvate dehydrogenase phosphatase deficiency
Gene
PDP1 [HSA:54704] [KO:K01102]
Other DBs
ICD-11: 5C53.02
ICD-10: E74.4
MeSH: C536258
OMIM: 608782
Reference
  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
Reference
  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
Reference
  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
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