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Summary
ETHYLMALONIC ENCEPHALOPATHY (EPEMA)
EE, (EPEMA SYNDROME)
602473
OMIM = Online Medalian Inheritance of Men
51188
19q13.31
  • L-carnitine
  • metronidazole
  • N-acetylcysteine
  • riboflavin
very rare (<1:1000000, 30 cases)
autosomal recessive
ethylmalonic encephalopathy protein 1 (ETHE1) catalyses the oxygen-dependent oxidation of glutathione persulfide (GSSH) to give persulfite and glutathione[Pettinati I et al. 2015]
symptoms
coma
cyanosis
defect of walking, running, rising or climbing
diarrhea
dystonia
early death
failure to thrive
feeding difficulties, poor feeding
hematuria
hypotonia
irritability
joint swelling
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
mental retardation
microcephaly
onset, infancy
onset, neonatal
Organic acids, urine
peripheral neuropathy
peripheral vascular disease
petechiae
respiratory insufficiency
seizures
short stature
spastic diplegia/quadriplegia
speech development, delayed, abnormal
laboratory finding
Butyrylglycine2.00200.000.002.00mmol/mol creatinineurinenewborn
Isovalerylglycine20.00200.000.200.90mmol/mol creatinineurine
2-Methylbutyrylglycine2.006.000.000.00mmol/mol creatinineurinechild
Isobutyrylglycine4.0048.001.004.00mmol/mol creatinineurine
Ethylmalonic acid34.00880.00 mmol/mol creatinineurineno data
Ethylmalonic acid73.001090.00 +Ôé¼g/mg creatinineurineno data
L-Lactic acid1.006.000.901.80mmol/lblood
Methylsuccinic acid20.0060.000.003.00mmol/mol creatinineurine
MRI, brain, abnormalities -
Carnitine 15.0040.00decreasedplasma
Carnitine 40.0060.00decreasedplasma
Cytochrome c oxidase 68.00437.00decreased activitymuscle
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