Table 2

ID	Gender	Diagnosis	Age of Onset	Presenting Symptoms	C3	C3/C2	Mutation		Variant Remarks	Hom. /Het.	Dom.
ID	Gender	Diagnosis	Age of Onset	Presenting Symptoms	C3	C3/C2	Nucleotide	Amino acid	Variant Remarks	Hom. /Het.	Dom.
1	M	MMA	4 months	Delayed motor and mental development, lethargy, tachypnea, metabolic acidosis, hyperammonemia, vomiting, fever, anemia and diarrhea	30.11	0.47	c.15G>A	p.K5K^a	Silent	Hom	ML
							c.165C>A	p.N55K^a	Missense	Het	NT
							c.323G>A	p.R108H^b	Missense	Hom	(βα)₈
5	M	MMA	3 Days	Delayed motor and mental development, lethargy, bad obstetric history	11.4	0.7	c.15G>A	p.K5K	Silent	Het	ML
9	F	MMA	6 Days	Tachypnea, disturbed conscious level then coma, loss of acquired motor and mental development, lethargy, hyperammonemia, anemia and admitted into PICU.	26.3	0.67	c.165C>A	p.N55K	Missense	Het	NT
10	M	MMA	NR	Enlarged liver, otitis media, tonsillitis, fever, developmental regression, loss of motor milestone, vomiting, metabolic acidosis and coma	NR	NR	c.7del	p.R3EfsX14^a	Frame Shift	Hom	ML
11	M	PA	3 Days	Hyperammonemia, jaundice, anemia and NICU admission	35.9	0.49	c.15G>A	p.K5K	Silent	Het	ML
11	M	PA	3 Days	Hyperammonemia, jaundice, anemia and NICU admission	35.9	0.49	c.165C>A	p.N55K	Missense	Het	NT

MMA- methylmalonic aciduria, PA- propionic aciduria, PICU- pediatric intensive care unit, NICU- neonatal intensive care unit, NR- not recorded, C3- propionylcarnitine,
C3:C2- acetylcarnitine: propionylcarnitine
^aNovel mutations
^bMutation involves CpG dinucleotide
Normal Reference values; C3<4.0 μmol/L, C3:C2<0.30

Table 2: Mutations and polymorphisms identified in this study in the coding exon 2 of MUT gene and phenotype/genotype correlation with the homozygous mutations.

ID