Pyruvate dehydrogenase complex deficiency

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Definition

None



Aetiology

None

Associated genes

Gene
PDHA1 Search ClinVar Search ClinGen


Clinical features


None

Pyruvate dehydrogenase complex deficiency may cause the following:




Investigations


MRI may show symmetrical T2/FLAIR hyperintense lesions in the basal ganglia or brainstem.

None


Laboratory Investigation Result

Treatment


The disorder can be effectively treated with a ketogenic diet and thiamine.




Research


Open questions

None