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Summary
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
201450
OMIM = Online Medalian Inheritance of Men
42
1p31.1
  • 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
symptoms
behavior, abnormal or bizarre, confusion
cardiac arrest
cardiac involvement, cardiac defects
coma
early death
encephalopathy
failure to thrive
HELLP syndrome
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
muscle weakness
no clinical signs or symptoms
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
rhabdomyolysis
seizures
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
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 creatinineurinechildhood 4-6y
Suberic acid6.005000.000.002.00mmol/mol creatinineurine
Octenedioic acid0.00250.00 7.00mmol/mol creatinineurine
Sebacic acid2.005000.000.002.00mmol/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
Ammonia150.00350.0025.0080.00-Ámol/lblood
Carnitine10.0020.0040.0060.00-Ámol/lplasma
D-Glucose0.503.002.805.00mmol/lserum
pH7.007.407.357.45no unitblood
Aspartate aminotransferase (ASAT, SGOT) 10.0050.00increasedserum
Lactate dehydrogenase (LDH) 110.00210.00increasedserum
Uric acid 0.605.50increasedserum
Acylcarnitine0.000.00 increasedurineno data
3-Hydroxysebacic acid 1.5024.10increasedurine
Octanoylcarnitine (C8) increasedblood
Octanoyl-/Decanoylcarnitine (C8/C10)5.0020.00 no unitblood
Hexanoylcarnitine (C6) increasedblood
Decenoylcarnitine (C10:1) increasedblood
Hexanoic acid0.000.00 increasedurineno data
Octanoic acid0.000.00 increasedurineno data
Decanoylcarnitine (C10) increasedplasma
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