Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Primary Pyruvate Dehydrogenase Complex Deficiency

Consultation w/metabolic physician or biochemical geneticist & specialist metabolic dietitian 1Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended)
STAT blood gas (arterial or venous), blood lactic acid, & glucose, comprehensive metabolic panel, serum beta-hydroxybutyrate (while on ketogenic diet), urinalysis, plasma acylcarnitines incl free & total carnitine (while on ketogenic diet)Urgent labs to be obtained if an acute metabolic crisis is suspected
Neurologic Eval for seizuresEEG
Eval for structural brain abnormalitiesBrain MRI if not previously performed
By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of primary PDCD in order to facilitate medical & personal decision making
Family support
& resources
Assess need for:

MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Primary Pyruvate Dehydrogenase Complex Deficiency Overview

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