3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Table 7 Expression of MCCC1 and MCCC2 wildtype and mutant alleles

Allele	PCC and MCC activities (pmol/min/mg protein)*
	Experiment 1			Experiment 2
	PCC	MCC	%**	PCC	MCC	%**
MCCC1-wildtype	311	193	100	331	157	100
vector only	335	0	0	377	0.3	0.2
MCCC1-p.E288G	283	0	0	352	1.8	1.1
MCCC1-p.G379D	293	0	0	326	0	0
MCCC1-p.I434M	330	87.6	45.4	324	74.5	47.4
MCCC2-wildtype	377	75.4	100	341	49.4	100
vector only	364	0.3	0.4	346	0	0
MCCC2-p.S39F	398	29.6	39.3	368	24.8	50.2
MCCC2-p.G118del	366	10.8	14.3	342	3.2	6.5
MCCC2-p.Y146N	341	58.7	77.9	372	44.1	89.3
MCCC2-p.H282R	301	9.6	12.7	339	2.3	4.7
MCCC2-p.A456V	265	2.0	2.7	340	0.1	0.2
MCCC2-p.S523G	313	56.1	74.4	344	30.9	62.6
MCCC2-wildtype	335	76.9	100	446	43.5	100
vector only	371	0	0	540	0.5	1.1
MCCC2-p.V434L	295	56.6	73.7	449	33.5	77.0
MCCC2-p.G475R	290	33.7	43.8	414	21.1	48.5

Transient expression was performed in transformed MCCC1 and MCCC2 deficient fibroblasts followed by the assay of propionyl-CoA carboxylase (PCC) and 3-methylcrotonyl-CoA carboxylase (MCC) activities. Transfection with an empty vector (vector only) was used as negative control.
*activities are the mean of duplicate determination.
** % of MCC activity of simultaneously expressed wildtype allele.

ISSN: 1750-1172