Prevalence (%) of clinical parameters based on data from 2 references describing 5 individuals
Add new symptom/sign to this disease
List of symptoms
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