Pyruvate dehydrogenase phosphatase deficiency

Definition:

Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported that the mutations in PDP1 gene result in lactic acidemia, progressive neurodegeneration, and seizure activity, culminating in early death.

References:

[1]. J M Cameron, et al. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr;125(3):319-26. [Content Brief]

[2]. M C Maj, et al. Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. [Content Brief]

[3]. Mary C Maj, et al. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. [Content Brief]

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