OMIM = Online Medalian Inheritance of Men
  • amino acid mixture
  • glycine
  • L-carnitine
  • low-protein diet
rare (1:100000)
autosomal recessive
mutation in the isovaleryl CoA dehydrogenase gene
altered consciousness, consciousness disturbance
developmental delay
episodic course (metabolic findings)
feeding difficulties, poor feeding
infantile spasms
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
Organic acids, urine
pain, abdominal
respiratory distress
shortened gestation time
sweaty feet odor
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
white matter changes, abnormalities
laboratory finding
4-Hydroxyisovaleric acid20.00300.000.002.00mmol/mol creatinineurine
3-Hydroxyisovaleric acid100.002000.0010.0066.00mmol/mol creatinineurineChildhood
Isovaleroylglycine10.009000.000.009.00mmol/mol creatinineurineALL
pCO215.0045.0038.0042.00mm Hgblood
pH7.007.407.357.45no unitblood
3-Hydroxybutyric acid200.001000.001.006.00mmol/mol creatinineurine
Ketone bodies ++/+++urine
L-Carnitine 23.0060.00decreasedplasma
Glycine1000.005000.00 mmol/mol creatinineurineno data
Acylcarnitine0.000.00 increasedurineno data
Isovaleryl/2-Methylbutyrylcarnitine (C5) increasedblood
MRI, brain, abnormalities -
Isovalerylasparagine0.000.00 increasedurineno data
Isovalerylhistidine0.000.00 increasedurineno data
Isovaleryllysine0.000.00 increasedurineno data
Isovaleryltryptophan0.000.00 increasedurineno data
N-Acetyltryptophane0.000.00 increasedurineno data
2-Methylsuccinic acid60.00600.00 mmol/mol creatinineurine
Methylmalonic acid50.00500.00 mmol/mol creatinineurine
Methylfumaric acid0.000.00 mmol/mol creatinineurine
2-Methyl-cis-aconitic acid0.000.00 increasedurineno data
Isovaleric acid0.000.00 increasedurineno data
Uric acid100.001000.00 +€mol/lplasma
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