Table 1.

Metabolic Abnormalities Associated with Dihydrolipoamide Dehydrogenase Deficiency

Metabolite	Presentation			Normal
	Neurologic	Hepatic	Myopathic
Plasma lactate	↑	↑	Normal to ↑	<2.2 μM
Urine α-ketoglutarate	Normal to ↑	Typically normal	Normal to ↑	• Neonates: 4–524 mmol/mol creatinine • Children: 36–117 mmol/mol creatinine • Adults: 4–74 mmol/mol creatinine
Urine branched-chain ketoacids	Absent to ↑	Typically absent	Absent to ↑	• Neonates: <7 mmol/mol creatinine • All other ages: not detectable
Plasma leucine	Normal to ↑	Typically normal	Normal to ↑	• Infants: 46–147 μM • Children: 30–246 μM • Adolescents-adults: 86–206 μM
Plasma isoleucine	Normal to ↑	Typically normal	Normal to ↑	• Infants: 12–77 μM • Children: 6–122 μM • Adolescents-adults: 34–106 μM
Plasma valine	Normal to ↑	Typically normal	Normal to ↑	• Infants: 79–217 μM • Children: 132–480 μM • Adolescents-adults: 155–343 μM
Plasma allo-isoleucine	Normal to ↑	Typically normal	Normal to ↑	<5 μM

This table was reproduced from reference (Quinonez and Thoene, 1993).