Pyruvate dehydrogenase phosphatase deficiency
PDHP deficiency

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Prevalence (%) of clinical parameters based on data from 2 references describing 5 individuals







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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%)
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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,



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,



The Journal of clinical endocrinology and metabolism - Jul 2005