Table 2.

First line metabolic work-up

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

Table 2. Results from basic metabolic investigations.

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.

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.

Interpretation acylcarnitine profile: Raised C6, C8, C10, C10:1 and C12:1.

Conclusion: Disturbed profile compatible with MCAD deficiency.