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Pyruvate dehydrogenase phosphatase deficiency
PDHP deficiency

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Prevalence of clinical parameters (%)







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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


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