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GTR Home > Conditions/Phenotypes > Pyruvate dehydrogenase phosphatase deficiency

Pyruvate dehydrogenase phosphatase deficiency

Synonyms
Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pyruvate dehydrogenase phosphatase deficiency (PDHPD) is an autosomal recessive disorder of pyruvate metabolism characterized by neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, and hypotonia (summary by Bedoyan et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase (PDH) deficiency, see 312170. [from OMIM]

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PDH, PDP, PDPC, PDPC 1, PPM2A, PPM2C, PDP1
    Summary: pyruvate dehydrogenase phosphatase catalytic subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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