Disorders

Pyruvate Dehydrogenase Phosphatase Deficiency

Synonym(s): Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency

Gene	Locus	Protein
PDP1	8q22.1	[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.