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Table 1 Characteristics of subjects with variant ACADM genotypes during fasting tolerance tests and PPA loading tests

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
Case Genotype NBS   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
  1. MCAD activity is determined in leukocytes. Residual MCAD enzyme activities are depicted as percentage from controls. At least one control was included in each enzyme assay. Ref, reference value; -, not determined; DC, dicarboxylic acids; Glc, glucose; HG, N- hexanoylglycine; SG, N- suberylglycine; PPG, phenylpropionylglycine; 5-OH-C, 5-OH-capronic acid; 5-OH-H, 5-OH-hexanoic acid; PPA, phenylpropionic acid; KB, ketone bodies; FFA, free fatty acids. * Characteristics of patients with classical ACADM genotypes during fasting according to Bonnefont et al. [10], median values are depicted. For NBS and enzymatic data median values from the UMCG cohort are depicted. # Reference values according to van Veen et al. [11] Median reference values are depicted. p10-p90 are indicated between brackets.