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Article

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Human genetics - 1 Apr 2009

Cameron J M, Maj M, Levandovskiy V, Barnett C P, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson B H

Abstract excerpt

Pyruvate dehydrogenase phosphatase deficiency has previously only been confirmed at the molecular level in two brothers and two breeds of dog with exercise intolerance. A female patient, who died at 6 months, presented with lactic acidemia in the neonatal period with serum lactate levels ranging from 2.5 to 17 mM. Failure of dichloroacetate to activate the PDH complex in skin fibroblasts was evident, but not in...

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Source

Identifiers

PMID: 19184109
DOI: 10.1007/s00439-009-0629-6

Genes

PDP1
PDP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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