Table 1.

Metabolic Abnormalities in DLD Deficiency by Presentation

MetabolitePresentationNormal
NeurologicHepaticMyopathic
Plasma lactate↑↑Normal to ↑<2.2 µmol/L
Urine α-ketoglutarateNormal to ↑Typically normalNormal to ↑
  • Neonates: 4-524 mmol/mol creatinine
  • Children: 36-117 mmol/mol creatinine
  • Adults: 4-74 mmol/mol creatinine
Urine branched-chain ketoacidsAbsent to ↑Typically absentAbsent to ↑
  • Neonates: <7 mmol/mol creatinine
  • All other ages: not detectable
Plasma leucineNormal to ↑Typically normalNormal to ↑
  • Infants: 46-147 µmol/L
  • Children: 30-246 µmol/L
  • Adolescents-adults: 86-206 µmol/L
Plasma isoleucineNormal to ↑Typically normalNormal to ↑
  • Infants: 12-77 µmol/L
  • Children: 6-122 µmol/L
  • Adolescents-adults: 34-106 µmol/L
Plasma valineNormal to ↑Typically normalNormal to ↑
  • Infants: 79-217 µmol/L
  • Children: 132-480 µmol/L
  • Adolescents-adults: 155-343 µmol/L
Plasma allo-isoleucineNormal to ↑Typically normalNormal to ↑<5 µmol/L

From: Dihydrolipoamide Dehydrogenase Deficiency

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