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 (1:200.000 in Germany)
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
feeding difficulties, poor feeding
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
maple sirup or caramel odor
mental retardation
metabolic acidosis
onset, neonatal
shrill cry
laboratory finding
3-Methyl-2-oxovaleric acid500.002500.000.002.00mmol/mol creatinineurine
2-Oxoisocaproic acid400.004400.000.002.00mmol/mol creatinineurine
2-Hydroxyisovaleric acid850.003600.000.002.00mmol/mol creatinineurine
2-Hydroxy-3-methylvaleric acid60.00400.000.002.00mmol/mol creatinineurine
2-Hydroxyisocaproic acid3.0080.000.002.00mmol/mol creatinineurine
2-Ketoisovaleric acid300.00800.000.002.00mmol/mol creatinineurine
allo-Isoleucine 0.000.00-Ámol/lurine
pH7.007.407.357.45no unitblood
Ketone bodies +++urine
BCKAD complex0.002.00 100.00% of normalfibroblasts
3-Hydroxybutyric acid 0.105.80increasedurine
Ketone bodies increasedblood
MRI, brain, white matter abnormalities -
EEG abnormalities -
Ferric chloride reaction greenish grayurine
L-Valine0.000.00 increasedurineno data
L-Leucine0.000.00 increasedurineno data
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