Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency

Table 1

The work-up leading to the diagnosis of DMAD in our patient.

(a) Gas chromatography–mass spectrometry analysis of organic acids

Organic acid	Qualitative or quantitative assay result (mmol/mmol creatinine)
Lactic acid	Elevated (124.1)
Glycolic acid	10.8
3-Hydroxypropionic acid	Present
3-Hydroxybutyric acid	19.9
3-Hydroxyisovaleric acid	Present
Methylmalonic acid	Present
Ethylmalonic acid	Elevated (26.0)
Succinic acid	Present
Methylsuccinic acid	Elevated (value not reported)
Fumaric acid	Elevated (17.1)
Glutaric acid	Elevated (164.6)
Adipic acid	Elevated (707.3)
Suberic acid	Elevated (147.5)
Sebacic acid	Missing
Cis-4-octene dioic acid	Present
Cis-4-decene dioic acid	Present
5-Hydroxyl caproic acid	Elevated (value not reported)
3-Hydroxydecane dioic acid	Present
3-Hydroxydecene dioic acid	Present
3-Hydroxydodecane dioic acid	Present
3-Hydroxydodecene dioic acid	Present
Isobutyryl glycine	Present
Butyryl glycine	Present
2-Methyl butyryl glycine	Present
Isovaleryl glycine	Elevated (178.2)
Hexanoyl glycine	Elevated (28.2)
Suberyl glycine	Present
4-Hydroxyphenyllactic acid	Elevated (212.8)
2-Hydroxyglutaric acid	Elevated (120.0)

(b) Acylcarnitine profile

Acylcarnitine	Assay result (μmol/L)
C0: Free L-carnitine	↓ 3.7
Total C0: Total L-carnitine	↓ 18.7
Free carnitine/total carnitine	↓ 0.20
C2: Acetyl carnitine	3.34
C3: Propionyl carnitine	0.07
C4: Butyryl/isobutyryl carnitine	↑ 0.71
C5: Isovaleryl/2-methylbutyryl carnitine	↑ 0.55
C6: Hexanoyl carnitine	0.09
C8: Octanoyl carnitine	↑ 0.24
C10: Decanoyl carnitine	↑ 0.47
C12: Dodecenoyl carnitine	↑ 0.71
C14: Tetradecanoyl carnitine	↑ 1.05
C16: Palmitoyl carnitine	↑ 5.09
C18: Stearyl carnitine	↑ 2.65