Case Report
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) |
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(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 |
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