Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Ki vehet részt

• Low PDC activity in skin fibroblasts, blood lymphocytes or a muscle biopsy, below the reference range, and with valid internal controls to establish sample and assay integrity, and have had PDHA1 testing, and/or
• A known pathogenic mutation of a gene associated with PDC deficiency; Relative Subjects Inclusion Criteria:
• First or second degree relative of a primary subject for whom genetic testing indicates the presence of variants of unknown significance (VUS)

Ki nem vehet részt

• Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency
• Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample
• Unwillingness to participate in the NAMDC Patient Data Registry and Biorepository protocol; Relative Subjects Exclusion Criteria:
• Inadequacy of needed blood sample and unwillingness or inability to submit such a sample