A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Table 2 Measurement of fatty acid oxidation rates in lymphocytes.

Metabolic steps	Substrates	Patient	Control tested in the same run	Controls(n = 40)
		(nmol/hr.mg protein)	(nmol/hr.mg protein)	(nmol/hr.mg protein)
Mitochondrial oxidations assayed
- by carbon dioxide production	[1-¹⁴C]-butyrate	2.61	6.60	4.20 ± 1.06[2.52-7.69]
- by carbon dioxide production	[1-¹⁴C]-octanoate	1.41	4.77	3.53 ± 0.81[3.53-6.37]
- by carbon dioxide plus water soluble material production	[1-¹⁴C]-palmitate	5.70	7.39	6.08 ± 1.03[4.28-8.51]
- by tritiated water formation	[9,10-³H]-myristic acid	1.03	9.27	7.75 ± 1.73[4.97-11.20]
- by tritiated water formation	[9,10-³H]-palmitic acid	1.75	7.41	6.12 ± 1.28[4.00-9.20]

Control values are means ± SD, range control values are given below between brackets.

ISSN: 1750-1172