Disorders


 

Pyruvate Dehydrogenase Complex Deficiency


Synonym(s): PDH Deficiency, PDHC Deficiency

 

OMIM


Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
  
University Hospitals Case Medical Center, Center for Inherited Disorders of Energy Metabolism - Cleveland, OH, USA• Analyte
• Enzyme assay
 

* 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.

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