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. 2015 May 5;23:101–112. doi: 10.1007/8904_2015_439

Table 1.

Genotypes, biochemical and clinical phenotypes

Pat. No. Mutation 1 Mutation severity Mutation 2 Mutation severity Genotype group C8 NBS C8 confirmation HG at confirmation (0 = not detectable 1 = detectable) Number of symptomatic episodes If symptomatic episode: hypoglycaemia (1 = yes, 0 = no) If symptomatic episode: impaired consciousness (1 = yes, 0 = no) Clinical status (1 = abnormal, 0 = normal) IQ Age at evaluation (years)
1 c.985A>G S c.985A>G S 1 1.73 1.91 0 0 0 128 14.4
2 c.985A>G S c.985A>G S 1 7.14 1.3 1 1a 1 1 0 109 13.7
3 c.985A>G S c.985A>G S 1 1.05 5.33 0 0 0 102 13.7
4 c.985A>G S c.985A>G S 1 7.58 10.1 1 1 0 1 0 79 12.3
5 c.985A>G S c.985A>G S 1 6.49 mv mv 1a mv 1 0 105 12.3
6 c.985A>G S c.985A>G S 1 22.46 2.31 mv 0 nd nd 11.3
7 c.985A>G S c.985A>G S 1 23.19 5.5 mv 0 0 106 11.2
8 c.985A>G S c.985A>G S 1 3.05 4.03 mv 0 0 104 9.9
9 c.985A>G S c.985A>G S 1 4.69 1.73 1 0 0 104 6.4
10 c.985A>G S c.985A>G S 1 1.87 3.1 1 0 nd 76 6.2
11 c.985A>G S c.985A>G S 1 4.9 3.39 1 2 mv 1 0 119 6.8
12 c.985A>G S c.985A>G S 1 6.43 3.96 1 0 0 118 5.9
13 c.985A>G S c.985A>G S 1 3.92 3.06 1 0 0 120 5.3
14 c.985A>G S c.985A>G S 1 6.54 1.59 1 0 0 AA 2.4
15 c.985A>G S c.985A>G S 1 40.22 0.97 1 1a 1 0 0 AA 1.8
16 c.985A>G S c.985A>G S 1 7.89 1.46 1 0 0 nd 1.2
17 c.799G>A Sb c.199T>C M 2 2.15 6.51c 1 1a 1 1 0 93 4.3
18 c.403_405delATT Sd c.199T>C M 2 2.51 0.39 1 0 0 114 9.9
19 c.985A>G S c.199T>C M 2 1.7 1.34 0 0 0 108 14.1
20 c.985A>G S c.199T>C M 2 2.2 0.5 1 0 0 127 8.4
21 c.985A>G S c.199T>C M 2 2.21 1.13 1 1a 1 0 0 100 8.4
22 c.985A>G S c.199T>C M 2 3.1 0.53 0 0 0 92 7.8
23 c.985A>G S c.199T>C M 2 1.36 0.35 1 0 0 122 7.7
24 c.985A>G S c.199T>C M 2 0.97 1.94 mv 0 0 122 7.8
25 c.985A>G S c.199T>C M 2 1.17 0.37 1 0 0 AA 1.9
26 c.985A>G S c.199T>C M 2 1.94 0.28 1 0 0 AA 1.5
27 c.1140_1141insG Ue/S c.199T>C M 2 0.78 0.48 mv 0 0 AA 7.8
28 c.985A>G S c.424_426delAAG Sf 3 6.17 4.6 mv 0 0 nd 4.3
29 c.985A>G S c.721G>A Ug 3 14.38 5.72 1 0 0 AA 3.2
30 c.985A>G S c.799G>A Sb 3 6.47 1.52 1 0 0 nd 1.6
31 c.985A>G S c.387+1G>A Sh 3 4.97 1.06 1 0 1 NAA 3.9
32 c.985A>G S c.362C>T Si 3 2.15 3.86 1 0 nd 107 7.1
33 c.985A>G S c.244_245insT Si 3 10.82 3.88 1 0 0 nd 1.7
34 c.985A>G S c.244_245insT Si 3 0.57 1.67 1 0 0 nd 0.6
35 c.583G>A Sj c.583G>A Sj 4 9.27 3.82 1 0 0 AA 2.7
36 c.799G>A Sb c.799G>A Sb 4 4.17 2.67 1 0 0 107 11.0
37 c.799G>A Sb c.799G>A Sb 4 6.01 1.24 mv 0 0 90 7.7

aDecompensation in neonatal period

bSmith et al. (2010)

cSample was taken in period of decompensation

dSturm et al. (2012) (Nomenclature c.397_399delATT, enzyme activity 3%)

eSequence variant of unknown clinical significance; theoretically causing frameshift and premature stop codon, therefore presumably severe mutation; enzyme activity in this patient 13.9% according to ter Veld et al. (2009)

fEnzyme activity in lymphocytes 0% (performed at the University Children’s Hospital, Duesseldorf)

gMutation not previously described

hYusupov et al. (2010)

iAndresen et al. (2001)

jWaddell et al. (2006)

AA result of Denver test appropriate for age, C8 octanoylcarnitine, HG hexanoylglycine in urine, mv missing value, NAA result of Denver test not appropriate for age, NBS newborn screening, nd not done, S severe (assumed mutation severity), M mild (assumed mutation severity), U mutation severity unknown