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Table 2 First line metabolic work-up

From: Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage

Variable Day 14 Normal range
Ammonia (μg/dl) 113 <228
Plasma amino acids Normal
Urine organic acids
 Lactate (mmol/mol creat) 76 <79
 3-Hydroxybutryrate (mmol/mol creat) 0 <26
 Acetoacetate (mmol/mol creat) 0 <9
 2-Oxoglutarate (mmol/mol creat) 942 <723
 5-Hydroxyhexanoate (mmol/mol creat) 48 <26
 Adipate (mmol/mol creat) 15 <30
 Hexanoylglycine (mmol/mol creat) 0 <2
 Octanoate (mmol/mol creat) 7 <2
 Sebacate (mmol/mol creat) 20 <4
 Suberate (mmol/mol creat) 20 <11
 Suberglycine (mmol/mol creat) 0 <1
Acylcarnitine profile   
 Free carnitine (μmol/l) 27.88 17.7 – 48.8
Saturated acylcarnitines
 Hexanoyl carnitine C6 (μmol/l) 1.07 0.09 - 0.26
 Octanoyl carnitine C8 (μmol/l) 4.45 0.05 - 0.23
 Decanoyl carnitine C10 (μmol/l) 0.48 0.06 - 0.31
Unsaturated acylcarnitines
 Decanoyl C10:1 (μmol/l) 1.41 0.04 – 0.25
 Dodecanoyl C12:1 (μmol/l) 0.05 n.d. - 0.20
  1. Table 2. Results from basic metabolic investigations.
  2. Interpretation urine organic acids: Mild hypoketotic dicarboxyluria. Increased excretion of 5-hydroxyhexanoate and octanoate, absense of suspect glycine conjugates (suberylglycine and hexanoylglycine). Normal ratio of adipine, suberine and sebacine acid.
  3. Conclusion : Mildly disturbed profile, not diagnostic. Differential diagnosis includes mild physiologic dicarboxylaciduria in children under 6 months, MCT diet or MCAD deficiency. To be correlated with clinical presentation and acylcarnitine profile.
  4. Interpretation acylcarnitine profile: Raised C6, C8, C10, C10:1 and C12:1.
  5. Conclusion: Disturbed profile compatible with MCAD deficiency.