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 1 Major metabolite analysis data in patient

Type of analysis	Metabolites	Patient	Controls
		(μmol/mmol creatinine)	(μmol/mmol creatinine)
URINARY ORGANIC ACIDS UPON METABOLIC CRISIS	3-hydroxybutyrate	930	< 56
	Dicarboxylic acids
	Adipic acid	894	< 21
	Suberic acid	254	< 8
	Sebacic acid	138	< 2
	Hexanoylglycine	< 2	< 2
	Suberylglycine	< 2	< 2
		(μmol/l)	(μmol/l)
CARNITINE FRACTIONS IN BLOOD	Total carnitine	22 (82^c )	34.6-83.6
	Unesterified carnitine	12 (45^c )	24.3-83.6
	Esterified carnitine	10 (37^c )	4.0-28.3
	Esterified/unesterified carnitine ratio	0.83 (0.82^c)	0.11-0.83
		(μmol/mmol creatinine)	(μmol/mmol creatinine)
BLOOD ACYLCARNITINES (DRIED BLOOD SPOT)^c	Octanoyl-carnitine	0.90^a	< 0.3 (n = 42)
BLOOD ACYLCARNITINES (DRIED BLOOD SPOT)^c	C8/C10 acylcarnitine ratio	> 5.1^b
URINARY ACYLCARNITINES^c
GS/MS analysis of lactones (chemical ionization)	Octanoyl-carnitine	63%	Acetylcarnitine as the major acylcarnitine
	Hexanoyl-carnitine	24%
	Acetyl, isobutyryl, butyryl, isovaleryl and 2-methyl butyryl- carnitine	Traces
Direct analysis of acylcarnitines by FAB/MS	Octanoyl-carnitine	55%	Acetylcarnitine as the major acylcarnitine
	Hexanoyl-carnitine	10%
	Nonanoylcarnitine	5%
	Acetyl, isobutyryl, butyryl, isovaleryl, decanoyl and 2-methylbutyrylcarnitine	Traces

Range values for c.985A>G homozygotes are ^a 0.5-15.6 (n = 53) and ^b 5.6-87 (n = 62).
^C Analytic determinations performed in patient under L-carnitine therapy (100 mg/kg/day).

ISSN: 1750-1172