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
behavior, autism or autistic-like
cerebral edema
early death
feeding difficulties, poor feeding
lethargy, drowsiness, malaise or sleep disorder
maple sirup or caramel odor
mental retardation
metabolic acidosis
onset, newborn
shrill cry
laboratory finding
2-Oxo-3-methylvaleric 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-Oxoisovaleric 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
Valine0.000.00 increasedurineno data
Leucine0.000.00 increasedurineno data
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