Warning: simplexml_load_file(http://api.omim.org/api/entry?mimNumber=608782&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A): failed to open stream: HTTP request failed! HTTP/1.1 400 in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Warning: simplexml_load_file(): I/O warning : failed to load external entity "http://api.omim.org/api/entry?mimNumber=608782&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A" in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Mito DB

Pyruvate dehydrogenase phosphatase deficiency
PDHP deficiency

Contact us
Return to database

We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mental retardation nervous 100 % 1327585 2011-10-19
Lactate accumulation circulatory 100 % 1327585 2011-10-14
Seizures nervous 100 % 1327585 2011-10-14
Hypotonia nervous 100 % 15855260 2011-10-14
Lactate accumulation circulatory 100 % 15855260 2011-10-14
Feeding difficulties multi 100 % 15855260 2011-10-14
Developmental delay nervous 100 % 15855260 2011-10-15
Hypotonia nervous 66 % 1327585 2011-10-14
Asphyxia multi 66 % 1327585 2011-10-14
Ataxia nervous 33 % 1327585 2011-10-15

List of references:

Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.
M Ito, H Kobashi, E Naito, T Saijo, E Takeda, A H Huq, Y Kuroda,

We developed an assay method for pyruvate dehydrogenase phosphatase activity using [1-14C]pyruvate and measured pyruvate dehydrogenase phosphatase activity in cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex. The enzyme activity of their fibroblasts was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. These observations suggest that the defect in activation of the pyruvate dehydrogenase complex in these patients might be due to a reduction in pyruvate dehydrogenase phosphatase activity.

Clinica chimica acta; international journal of clinical chemistry - Jul 1992

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Mary C Maj, Neviana MacKay, Valeriy Levandovskiy, Jane Addis, E Regula Baumgartner, Matthias R Baumgartner, Brian H Robinson, Jessie M Cameron,

Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect has never been established.

The Journal of clinical endocrinology and metabolism - Jul 2005

Warning: Use of undefined constant jump - assumed 'jump' (this will throw an Error in a future version of PHP) in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 715