Table 4.

Mutations detected in the expatriates (2011 to 2014)

Disorders	Gene	Nucleotide change	Amino acid change	Ethnicity
Phenylketonuria	PAH	c.842+1G>A	Splicing	Syria
		c.782G>A c.967_969delACA	p.R261Q p.T323del	Egypt Egypt
		c.165delT	p.F55Lfs	Syria
		c.226G>A	p.E76K	Sudan
		c.168+1G>A	Splicing	Palestine
Maple syrup urine disease	BCKDHA	c.1227-1229 del CTC	p.F409_410 delinsL	Sudan
		c.335T>C	p.L112P	Pakistan
	DBT	c.634C>T	p.Q212*	Yemen
	BCKDHB	c.490G>A	p.A164T	Jordan
Citrullinemia 1	ASS1	c.787G>A	p.V263M	Jordan
		c.535 T>C	p.W179R	Syria
		c.1168G>A	p.G390R	Pakistan
Citrullinemia 2	SLC25A13	c.1813C>T	p.R605X	Pakistan
Arginosuccinic aciduria	ASL	c.544C>G	p.R182G	Sudan
		c.971A>C	p.D324A	India
Arginase deficiency	ARG1	c.130+1G>A	Splicing	Syria
Propionic aciduria	PCCA	Deletion of exons and introns	–	Egypt
	PCCB	c.1540C>T	p.R514X	India
Methylmalonic aciduria	Mut	c.1132G>T	p. V378L	Pakistan
3-Methylcrotonyl glycinuria	MCCC1	519bp deletion/1441G>T	p.A481S	Sudan
		c.1267+3A>C	Splicing	Jordan
	MCCC2	c.691A>T	p.I231F	Iran
HMG-CoA lyase deficiency	HMGCL	c.215_252+131del169	Splicing	Jordan
Glutaric aciduria type 1	GCDH	c.528C>G	p.C176R	Pakistan
Cobalamin C deficiency	MMACHC	c.271dupA	p.R91Kfs*	Pakistan
		c.1A>G	p.M1	Pakistan
Carnitine deficiency	SLC22A5	c.1400 C>G	p.S467C	Afghanistan
Carnitine/acylcarnitine translocase	SLC25A20	c.383T>A	p.M128K	Iraq
Glutaric aciduria type 2	ETFDH	c.122G>T	p.R41L	Pakistan
Biotinidase deficiency	BTD	c.626G>A	p.R209H	Egypt
		c.1368A>C	p.Q456H	Palestine
		c.380C>T	/p.P127L	Australia
		c.1420G>T	p.E474X	Iraq
		c.470G>A	p.R157H	Syria
		c.557G>A	p.C186Y	Pakistan
		c.1330G>C	p.D444H	Panethnica
		c.968A>G c.476G>A	p.H323R p.S159N	India India
		c.1595C>T	p.T532M	Syria, Morocco, Yemen
		c.424C>A	p.P142T	Somalia
		c.476G>A c.922A>C	p.S159D p.M308L	India India
		c.1489C>T	p.P497S	Egypt

Mutations in bold are novel

^aOman, Pakistan, Palestine, Morocco, and Australia