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 |