Table 6.

Recommended Evaluations Following Initial Diagnosis of Dihydrolipoamide Dehydrogenase Deficiency in an Ill Neonate

System/ConcernEvaluationComment
Metabolic
decompensation 		Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian 1Transfer to a specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended)
STAT blood gas (arterial or venous), ammonia, lactic acid, CK, & glucoseUrgent labs to be obtained if an acute metabolic crisis is suspected
Plasma free & total carnitine, plasma amino acids, & urine organic acidsTo be obtained during a period of acute metabolic decompensation, if possible
Hepatic Measure liver transaminases (AST, ALT) & assess liver synthetic function.
Assessment of liver sizeVia physical exam &/or ultrasonography
Neurologic Evaluate for seizuresConsider EEG if concerned.
Cardiac EchocardiogramTo assess for cardiac dysfunction & hypertrophy

From: Dihydrolipoamide Dehydrogenase Deficiency

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