Table 8. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Hepatic	Measurement of liver transaminases (AST, ALT) & assessment of liver synthetic function
Eyes	Ophthalmologic eval	If concerns for vision loss or ptosis
Metabolic	Blood gas (arterial or venous), ammonia, lactic acid, CK, & glucose Plasma free & total carnitine, plasma amino acids, & urine organic acids	Laboratory studies should be obtained urgently if an acute metabolic crisis is suspected or routinely as part of baseline testing for those w/hepatic or myopathic forms.
Neurologic	Assessment for muscular weakness	If myopathic form is suspected
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling

From: Dihydrolipoamide Dehydrogenase Deficiency

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

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