OMIM = Online Medalian Inheritance of Men
1p21.2, 6q14.1, 19q13.2
  • amino acid mixture
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • low branched-chain aminoacid diet
  • vitamin B1 (thiamine)
rare (1:200000 in Germany - 1:185000 world wide)
autosomal recessive (homozygous or compound)
4 different types:
(1) classic form
(2) intermittent form (normal between atacks)
(3) intermediate form
(4) Thiamine-responsive
(5) Dihydrolipoyl dehydrogenase (E3)-deficient In MS/MS newborn screening, the mass spectrum of hydroxyproline cannot be differentiated from isoleucine and leucine causing false positive newborn screening test results for maple syrup urine disease (MSUD) [Staufner et al. 2016]
behavior, autism or autistic-like
cerebral edema
early death
episodic course (clinical symptoms)
feeding difficulties, poor feeding
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
maple sirup or caramel odor
mental retardation
metabolic acidosis
onset, childhood
onset, infancy
onset, neonatal
shrill cry
unusual odor / odour
white matter changes, abnormalities
laboratory finding
3-Methyl-2-oxovaleric acid500.002500.000.002.00mmol/mol creatinineurinechild
2-Oxoisocaproic acid20.004400.000.002.00mmol/mol creatinineurine
2-Hydroxyisovaleric acid850.003600.000.002.00mmol/mol creatinineurineALL
2-Hydroxyisocaproic acid60.00400.000.002.00mmol/mol creatinineurine
2-Oxoisovaleric acid300.00800.000.002.00mmol/mol creatinineurine
allo-Isoleucine40.00800.000.000.00mmol/mol creatinineurine
L-Isoleucine50.00500.000.005.00mmol/mol creatinineurine
pH7.007.407.357.45no unitblood
Ketone bodies +++urine
BCKAD complex0.002.00 100.00% of normalfibroblasts
3-Hydroxybutyric acid200.001000.000.105.80mmol/mol creatinineurine
MRI, brain, white matter abnormalities -
EEG abnormalities -
Ferric chloride reaction greenish grayurine
Valine8.0050.00 mmol/mol creatinineurine
Leucine80.00240.00 mmol/mol creatinineurine
allo-Isoleucine40.00800.00 mmol/mol Creaurine
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