Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Metabolic decompensation	Consultation w/metabolic physician or biochemical geneticist & specialist metabolic dietitian ¹	Transfer 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 seizures	EEG
Eval for structural brain abnormalities	Brain MRI if not previously performed
Genetic counseling	By genetics professionals ¹	To 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: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing or therapy (speech, PT &/or OT) referral.

System/Concern

Evaluation

Comment

Metabolic
decompensation

Consultation w/metabolic physician or biochemical geneticist & specialist metabolic dietitian ¹

Transfer 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 seizures

EEG

Eval for structural brain abnormalities

Brain MRI if not previously performed

Genetic
counseling

By genetics professionals ¹

To 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:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing or therapy (speech, PT &/or OT) referral.

From: Primary Pyruvate Dehydrogenase Complex Deficiency Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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