Table 3.

Mutations detected in the citizens (2011–2014)

Disorders	Gene	Nucleotide change	Amino acid change
Phenylketonuria	PAH	c.168+5G>Ca	Splicing
		c.1066-11G>A	Splicing
		c.250G>Tb c.727C>Tb	p.D84Y p.R243*
Dihydropteridine reductase deficiency	QDPR	c.49G>Cb	p.G17R
Maple syrup urine disease	DBT	c.1281+1G>T	Splicing
Argininoosuccinic aciduria	ASL	c.332G>A c	p.R111Q
Propionic aciduria	PCCB	c.1519C>T	p.E507stop
Methylmalonic aciduria	Mut	c.2080C>Tb	p.R694W
		c.1420C>Tb	p.R474stop
Cobalamin B deficiency	MMAB	c.197-1 G>T	Splicing
Cobalamin C deficiency	MMACHC	c.271dupA	p.R91Kfs*14
3-Methylcrotonyl glycinuria	MCCC1	c.1106C>G	p.P369R
		c.694C>T	p.R232W
		c.89+2_89+34del	–
	MCCC2	c.735dupC d	p.V247Gfs*2
Beta-ketothiolase deficiency	ACAT1	c.86_87dupTG	p.E30Wfs*11
Glutaric aciduria type 1	GCDH	c.242 C>T	p.W81L
		c.427G>A	p.V143I
Isovaleric aciduria	IVD	c.1193G>A	p.R398Q
Glutaric aciduria type 2	ETFDH	c.1414G>Ab	p.G472R
		c.807A>C	p.G269H
Medium-chain acyl-CoA dehydrogenase deficiency	ACADM	c.985A>G	p.K304E
		c.362C>Tb	p.Y121I
Carnitine deficiency	SLC22A5	248G>T	p.R83L
Biotinidase deficiencye	BTD	c.476G>Ab	p.S159N
		c.1330G>C	p.D444H
		c.1595C>Tb	p.T532M
		c.968A>G	p.H323R
		c.1207T>G	p.F403V
		c.557G>A	p.C186Y
		c.1489C>T	p.P497S
		c.257T>C b	p.M86T

Mutations in bold are found only in citizens

^aEight patients from three tribes had the same mutations

^bMutations identified in citizens through the newborn screening

^cTwo patients from two tribes had the same mutations

^dTwo patients from two tribes had the same mutations. In addition, four mothers from two tribes had the same mutation and their newborns had abnormal C5OH analytes

^eTen (76%) of 13 patients had compound heterozygous mutations