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Summary
ETHYLMALONIC ENCEPHALOPATHY, EE (EPEMA)
METABOLIC ENCEPHALOPATHY (EPEMA) EPEMA SYNDROME
602473
OMIM = Online Medalian Inheritance of Men
51188
19q13.31
rare
autosomal recessive
mutations in ETHE1 gene
symptoms
acrocyanosis
ataxia
diarrhea
early death
encephalopathy
epilepsy
extrapyramidal signs
failure to thrive
hearing defect, deafness
hematuria
hemorrhagic diarrhea, chronic
hypotonia
irritability
lactic acidosis
mental retardation
myelopathy
onset, infancy
ophthalmoplegia
peripheral vascular disease
petechiae
progressive neurologic defect
psychomotor retardation
pyramidal signs
respiratory insufficiency
seizures
spastic diplegia/quadriplegia
strokelike episodes
laboratory finding
MRI, brain, abnormalities - ---
Butyrylcarnitine (C4) increasedurine
Butyrylcarnitine (C4) increasedplasma, blood
Isovalerylglycine increasedurine
Ethylmalonic acid increasedurine
Methylsuccinic acid increasedurine
2-Methylbutyrylglycine increasedurine
L-Lactic acid increasedplasma
Thiosulfate increasedurine
Isobutyrylcarnitine (C4) increasedblood, plasma
Butyryl/Isobutyrylcarnitine (C4) increasedplasma
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