From: In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
RESULTS FASTING TEST AND PPA LOADING TEST IN CHILDREN WITH VARIANT ACADM GENOTYPES | |||||||||||||||||
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Case | Genotype | NBS | Â | MCAD activity (%) | Fasting test | PPA loading test | |||||||||||
 | Allele 1 | Allele 2 | C8:0 | C8:0/C10:0 | Organic acids | C6-CoA | +C4-CoA | PP-CoA | Age (mo) | Duration (h) | Glc(t = 15 h) | KB(t = 15 h) | Glc*KB(t = 15 h) | FFA/KB(t = 15 h) | C8:0 (t = 15 h) | C8:0/C10:0 | PP-glycine |
1 | c.985A>G | c.199T>C | 2.85 | 2.3 | Normal | 39 | 36 | - | - | - | - | - | - | - | - | - | - |
2 | c.985A>G | c.199T>C | 0.67 | 2.7 | DC, HG | 44 | 29 | 58 | - | - | - | - | - | - | - | - | - |
3 | c.985A>G | c.199T>C | 0.35 | 2.3 | Trace N-HG, SG, DC | 48 | 43 | 48 | - | - | - | - | - | - | - | - | - |
4 | c.985A>G | c.199T>C | 0.74 | 2.8 | Trace HG | 36 | 34 | 44 | 10 | 18 | 4.5 | 1.1 | 5.0 | 1.0 | 3.7 | 3.4 | Trace |
5 | c.985A>G | c.473A>G | 0.39 | 2.3 | Normal | 38 | 25 | 39 | 6 | 18.5 | 2.8 | 0.3 | 0.8 | 2.2 | 2.0 | 3.8 | Absent |
6 | c.985A>G | c.734C>T | 1.41 | 3.0 | Trace DC, 5-OH-C, HG, SG | 41 | 17 | 11 | 13 | 17 | 4.4 | 0.8 | 3.3 | 1.9 | 3.6 | 4.2 | Trace |
7 | c.985A>G | c.928G>A | 2.28 | 3.2 | 5-OH-H, trace HG | 48 | 23 | 0 | 16 | 15 | 3.2 | 3.5 | 10.6 | - | 1.9 | 2.9 | Absent |
8 | c.985A>G | Not found | 0.70 | 1.3 | Normal | 28 | - | - | 25 | 18.5 | 4.0 | 0.9 | 3.7 | 1.5 | 2.9 | 2.1 | Trace |
9 | c.985A>G | Not found | 0.50 | 0.8 | Normal | 15 | 11 | 86 | 27 | 16.5 | 2.9 | 1.4 | 5.8 | 0.8 | 0.5 | 2.2 | Trace |
* | Classical ACADM genotype | 2.98 | 12.7 | 5-OH-H, HG, PPG, SG, DC | 28 | 14 | 0 | - | 17-24 | 3.1 | 0.6 | 5.7 | 2.2 | - | - | High | |
# | Control population | - | - | - | - | - | - | 0-24 | 15 | 4.1(3.1-4.8) | 1.3(0.4-3.2) | 5.5(1.2-15.4) | 1.1(0.7-2.4) | - | - | Absent | |
# | Control population | - | - | - | - | - | - | 25-84 | 15 | 4.6(3.8-5.3) | 0.5(0.1-1.7) | 2.1(0.4-8.9) | 1.8(0.8-6.4) | - | - | Absent |