OMIM = Online Medalian Inheritance of Men
  • avoidance of fasting
  • glycine
  • high-carbohydrate diet
  • L-carnitine
  • low-fat diet
rare (1:9000 -1:10000 in Northern Europe)
autosomal recessive
mutation in the medium-chain acyl-CoA dehydrogenase gene
behavior, abnormal or bizarre, confusion
cardiac arrest
cardiac involvement, cardiac defects
early death
failure to thrive
HELLP syndrome
hepatomegaly (large liver)
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
muscle weakness
no consistent clinical signs or symptoms
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
5-Hydroxyhexanoic acid15.00700.000.007.00mmol/mol creatinineurine
7-Hydroxyoctanoic acid4.00300.000.002.00mmol/mol creatinineurine
Adipic acid35.005200.001.007.00mmol/mol creatinineurine
Suberic acid6.005000.001.0010.00mmol/mol creatinineurine
Octenedioic acid0.00250.00 7.00mmol/mol creatinineurine
Sebacic acid10.005000.000.002.00mmol/mol creatinineurinechild
Decenedioic acid2.00750.000.002.00mmol/mol creatinineurinechild
Hexanoylglycine2.00730.000.200.80mmol/mol creatinineurine
Phenylpropionylglycine1.0090.000.002.00mmol/mol creatinineurine
Suberylglycine6.002200.000.020.52mmol/mol creatinineurine
Adipic acid/3-Hydroxybutyric acid0.8033.00 ratiourine
pH7.007.407.357.45no unitblood
Aspartate aminotransferase (ASAT, SGOT) 10.0050.00increasedserum
Lactate dehydrogenase (LDH) 110.00210.00increasedserum
Uric acid 120.00350.00increasedserum
Acylcarnitine0.000.00 increasedurineno data
3-Hydroxysebacic acid 1.5024.10increasedurine
Octanoylcarnitine (C8) increasedblood
Octanoyl-/Decanoylcarnitine (C8/C10)5.0020.00 no unitblood
N-Acetylarginine increasedblood
Decenoylcarnitine (C10:1) increasedblood
Hexanoic acid0.000.00 increasedurineno data
Octanoic acid0.000.00 increasedurineno data
Decanoylcarnitine (C10) increasedplasma
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