Pyruvate dehydrogenase phosphatase deficiency |
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Prevalence (%) of clinical parameters based on data from 2 references describing 5 individuals
Add new symptom/sign to this disease
| 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,
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