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Table 1 Major metabolite analysis data in patient

From: A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Type of analysis Metabolites Patient Controls
   (μmol/mmol creatinine) (μmol/mmol creatinine)
URINARY ORGANIC ACIDS
UPON METABOLIC CRISIS
3-hydroxybutyrate 930 < 56
Dicarboxylic acids   
Adipic acid 894 < 21
Suberic acid 254 < 8
Sebacic acid 138 < 2
Hexanoylglycine < 2 < 2
Suberylglycine < 2 < 2
   (μmol/l) (μmol/l)
CARNITINE FRACTIONS
IN BLOOD
Total carnitine 22 (82c ) 34.6-83.6
Unesterified carnitine 12 (45c ) 24.3-83.6
Esterified carnitine 10 (37c ) 4.0-28.3
Esterified/unesterified carnitine ratio 0.83 (0.82c) 0.11-0.83
   (μmol/mmol creatinine) (μmol/mmol creatinine)
BLOOD ACYLCARNITINES
(DRIED BLOOD SPOT)c
Octanoyl-carnitine 0.90a < 0.3 (n = 42)
C8/C10 acylcarnitine ratio > 5.1b  
URINARY ACYLCARNITINESc
GS/MS analysis of lactones
(chemical ionization)
Octanoyl-carnitine 63% Acetylcarnitine as the major acylcarnitine
Hexanoyl-carnitine 24%
Acetyl, isobutyryl, butyryl, isovaleryl and 2-methyl butyryl- carnitine Traces
Direct analysis of
acylcarnitines by FAB/MS
Octanoyl-carnitine 55% Acetylcarnitine as the major acylcarnitine
Hexanoyl-carnitine 10%
Nonanoylcarnitine 5%
Acetyl, isobutyryl, butyryl, isovaleryl, decanoyl and 2-methylbutyrylcarnitine Traces
  1. Range values for c.985A>G homozygotes are a 0.5-15.6 (n = 53) and b 5.6-87 (n = 62).
  2. C Analytic determinations performed in patient under L-carnitine therapy (100 mg/kg/day).