A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

Table 1 Urinary organic acids profile analysis performed by Gas chromatography – mass spectroscopy

	Urinary concentrations in the patient (mmol/mol of creatinine)	Control Range
Adipic acid	1004.2 ↑↑↑	< 4.7
Suberic acid	131.8 ↑↑	< 1.9
Sebacic acid	137.9 ↑	< 9
Glutaric acid	56.0 ↑↑	< 2
Ethylmalonic acid	65.9 ↑	< 8.7
2-hydroxyglutaric acid	33.5 ↑	< 16.4
3-hydroxyglutaric acid	12.5 ↑↑	< 0.4
Hexanoylglycine	20.1 ↑	< 4

ISSN: 1755-8794