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Table 3 Mutations for small molecule IEMs

From: Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Disease category

Disease

Gene

Reported mutations

Novel mutations

Founder Vs. Private

Type of mutation

Organic acidemias

Propionic acidemia

PCCA

 

c.425G > A(p. Gly142Asp)

Founder

Homozygous, missense

c.350G > A (p.Gly117Asp)

 

Private

 

PCCB

c.1050dupT

 

Private

Dupplication

Methylmalonic acidemia

MUT

 

c.329 A > G(p. Tyr110Cys)

Founder

Homozygous, missense,

c.1677-1G > C

 

Private

Splice

Cobalamin A Defect

MMAA

c.586C > T (p.Arg196*)

 

Private

Nonsense

Cobalamin C defect

MMACHC

c.394C > T (p. Arg132*)

 

Private

Nonsense

Glutaric acidemia

GCDH

c.1144G > A (p.Ala382Thr)

 

Private

missense

 

c.853-2A > G (IVS8-2A > G)

Private

Splice

 

c.278A > G (p.His93Arg)

Private

missense

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

HMGCL

c.122G > A

 

Founder

missense

3-Methylcrotonyl CoA carboxylase deficiency

MCCC1

 

c.1808 dup A(p. p.Asn603 Lysfs*5)

Private

Homozygous, duplication

MCCC2

c.1147A > T (p.Lys383*)

 

Private

Nonsense

Biotinidase deficiency

BTD

c.755A > G (p.Asp252Gly)

c.1330G > C (p.Asp444His)

 

Private

Two heterozygous missense mutations in Exon 4

3-Methylglutaconic aciduria type III

OPA3

 

c.194delG(p. Gly65Alafs*7)

Private

Homozygous, deletion

Ethylmalonic encephalopathy

ETHE1

 

c.263 C > T(p. Ser88Leu)

Private

Homozygous, missense

B-Ketothiolase deficiency

ACAT1

 

c.412-419del(p. Gln138Tyrfs*36)

Private

Homozygous, deletion

Isovaleric acidemia

IVD

 

c.358C > T(p. Arg120X)

Private

Homozygous, nonsense

Malonyl-CoA decarboxylase deficiency

MLYCD

 

c.953_954delAG(p. Glu318Valfs*35)

Private

Homozygous, deletion

Aminoacidopathies

Homocystinuria

     

Classical

CBS

c.969G > A (p.Trp323Ter)

 

Founder

Homozygous missense

c.1006C > T (p.Arg336Cys)

 

Founder

Homozygous missense

MTHFR deficiency

MTHFR

c.680C > T (p.Thr227Met)

 

Private

 

MAT deficiency

MAT1A

 

c.1081G > T(p.Val361Phe)

Private

Homozygous, missense

PKU

PAH

c.1169A > G (p.Glu390Gly)

 

Private

Homozygous, missense

PTPS deficiency

PTPS

 

c.238A > G(p. Met80Val)

Founder

Homozygous, missense

c.169_171delGTG (p.Val57del)

 

Founder

Homozygous, deletion

MSUD

BCKDHA

 

c.347A > G(p. Asp116Gly)

Private

missense

c.905A > C (p.Asp302Ala)

 

Founder

missense

BCKDHB

 

c.674 T > C(p.Leu225Pro)

Private

missense

 

c.1144 T > C(p.Cys382Arg)

Private

Homozygous, missense

Asparagine synthetase deficiency

ASNS

 

c.1160A > G (p.Tyr377Cys)

Founder

Homozygous, missense

Vitamins responsive disorders

Biotin Thiamine Responsive Basal Ganglia Disease

SLC19A3

c.1264A > G (p.Thr422Ala)

 

Founder

Homozygous, missense

Pyridoxine-dependent epilepsy

ALDH7A1

c.877dupAA (p.Ser293Lysfs*22)

 

Private

Duplication

Inborn Errors of Carbohydrates

Galactosemia

GALT

c.691 C > T (p.Arg231Cys)

 

Founder

Homozygous, missense

c.404C > T (p.Ser135Leu)

 

Private

Homozygous, missense

c.563A > G (P.Gln188Arg)

 

Private

Homozygous, missense

Transaldolase Deficiency

TALDO1

c.793delC (p.Gln265ArgfsX56)

 

Founder

Deletion

Hereditary fructose intolerance

ALDOB

c.360_363delCAAA (p.Asn119LysfsX31)

 

Private

Deletion

Fructose 1,6 bisphosphatase deficiency

FBP1

c.114_119dup (p. Cys39_Thr40dup)

 

Private

Duplication

Urea cycle disorders

Argininosuccinic Aciduria

ASL

c.556C > T (p.Arg186Trp)

 

Founder

Missense

c.1060C > T (p.Q354X)

 

Founder

Nonsense

Citrullinemia type 1

ASS1

 

c.364-2A > G

Founder

Homozygous, intronic

c.370G > A (p.Asp124Asn)

 

Founder

Homozygous, missense

Fatty acid oxidation defect

VLCAD

ACADVL

 

c.494 T > C(Phe165Ser)

Private

Homozygous, missense

VLCAD

ACADVL

c.65C > A (p.Ser22*)

 

Founder

Nonsense

MCAD

ACADM

 

c.255 G > T(p.Gly119*);)

Private

Homozygous, nonsense

 

c.938 T > G(p.Phe313Cys

Private

Homozygous, missense

Carnitine uptake defect

SLC22A5

 

c.1385G > A(p. Gly462Asp)

Private

Homozygous, missense

Aminoacids transport defect

Cystinuria

SLC3A1

 

c.1711 T > A(p.Cys571Ser)

Founder

Homozygous, missense

c.1400 T > A (p.Met467Lys)

 

Private

 

SLC7A9

 

c.1166 C > T(p.Thr389Met)

Private

Homozygous, missense

Metal Transport Defect

Wilson disease

ATP7B

c.2230 T > C (p.Ser744Pro)

 

Founder

Homozygous, missense

Disorders od Haem biosynthesis

Acute Intermittent Poephyria

HMBS

c.760delC (p.Leu254X)

 

Founder

Nonsense

Cholesterol biosynthesis defect

CHILD syndrome

NSDHL

c.314C > T (p.Ala105Val)

 

Private

Homozygous, missense

  1. PKU phenylketonuria, MSUD maple syrup urine disease, VLCAD very long-chain acyl-CoA dehydrogenase, MCAD medium-chain acyl-CoA dehydrogenase