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Table 2 List of mutations (nucleotidic or amino acid change depending on the patients) for patients diagnosed with PA, MMA and IVA and neurological evaluation

From: Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

Patient Gene Allele 1 Allele 2 Cognitive evolution at 11 y Neurological examination anomalies Brain MRI anomalies
1 PCCA c.1284 + 4A > T p.Arg430X A no  
2 PCCA p.Ala138Thr p.Ala138Thr B yes yes
3 PCCB p.Gln147GlnfsX2 c.1218_1231del14ins12 D no no
4 PCCB p.Glu331X p.Glu331X C no yes
5 PCCB p.Glu331X p.Glu331X D yes yes
6 PCCB p.Arg514X p.Arg529ArgfsX44   yes  
7 PCCB p.Arg165Trp ? B no  
8 PCCB p.Phe180Ser p.Phe180Ser   yes yes
9 PCCB p.His258Arg p.Arg376Cys B no no
10a MMAA del exon2-3-4 del exon2-3-4 A no  
10b MMAA del exon2-3-4 del exon2-3-4 D yes yes
11 MMAA p.Arg22X p.Arg22X A (6 y) no yes
12 MMAA p.Thr221del p.Thr221del A no  
13 MMAA p.Arg145X ? A no  
14 MMAA p.Arg196X p.Arg196X A (6 y) no  
15 MMAA c. 592_595del c.594_598del A no no
16 MMAA p.Lys276Asn p.Lys276Asn A no  
17 MMAB p.Arg186Trp p.Arg190Cys A (6 y) no  
18 MUT c.360_361insT c.360_361insT C no yes
19 MUT c.693_694insA c.693_694insA D (6 y) no yes
20 MUT p.Gln352X p.Gln352X   no  
21 MUT p.Arg474X p.Arg511X C yes yes
22 MUT c.1876_1888del c.1876_1888del D yes yes
23 MUT p.Arg228X p.Arg369Cys   yes no
24 MUT p.Ser342X p.Arg93His B (6 y) no  
25 MUT p.Ser342X p.Arg694Trp C no no
26 MUT p.Ser342X p.Ala191Glu A (6 y) no yes
27 MUT c.662delT p.Gly158Val   no no
28 MUT p.Arg511X p.Gly642Arg A no no
29 MUT p.Arg511X p.Arg603Thr D (6 y) no no
30 MUT p.Ala191Glu p.Ala191Glu D (6 y) no yes
31 MUT p.Ala191Glu p.Ala191Glu D no  
32 MUT p.Ala191Glu p.Ala191Glu A (6 y) no yes
33a MUT p.Ala191Glu p.Gly623Arg A (6 y) no  
33b MUT p.Ala191Glu p.Gly623Arg A yes no
34 MUT p.Gly203Arg p.Arg108Cys   no yes
35 MUT p.Gly203Arg p.Met700Lys A no no
36 MUT p.Gly215Ser p.Gly215Ser A (6 y) no no
37 MUT p.Asn219Tyr p.Asn219Tyr A no no
38 MUT p.Asn219Tyr p.Asn219Tyr   yes no
39 MUT p.Asn219Tyr p.Gln383His D yes yes
40 MUT p.Asn219Tyr p.Val162Phe B (6 y) no  
41 MUT p.Asn219Tyr p.Ala191Glu D yes yes
42 MUT p.Thr230Ile p.Thr230Ile A no yes
43a IVD p.Arg284Gln p.Arg284Gln   no  
43b IVD p.Arg284Gln p.Arg284Gln A no  
44 IVD p.Gly289Arg p.Gly289Arg   no yes
45 IVD p.Cys378Arg p.Cys378Arg A no  
46 IVD p.Arg392His p.Arg392His B no