| ETHYLMALONIC ENCEPHALOPATHY, EE (EPEMA) | |
| METABOLIC ENCEPHALOPATHY (EPEMA); EPEMA SYNDROME; ETHE1 | |
|
602473
OMIM = Online Mendelian Inheritance of Men | |
|
51188 | |
| persulfide dioxygenase ETHE1, mitochondrial | |
| rare (<1:200000) autosomal recessive mutations in ETHE1 gene | |
| Laboratory findings | Ethylmalonic acid inc (urine) Isobutyrylglycine inc (urine) 2-Methylbutyrylglycine inc (urine) 2-Methylsuccinic acid inc (urine) Butyryl/Isobutyrylcarnitine (C4) inc (plasma) Butyrylglycine inc (plasma) Butyrylglycine inc (blood) Butyrylglycine inc (urine) Isobutyrylcarnitine (C4) inc (urine) Isobutyrylcarnitine (C4) inc (dried blood spot (DB) Isovaleroylglycine inc (urine) L-Lactic acid inc (plasma) Thiosulfate inc (urine) |
| Symptoms | acrocyanosis encephalopathy petechiae hemorrhagic diarrhea, chronic dystonia failure to thrive hematuria hypotonia lactic acidosis myelopathy peripheral vascular disease psychomotor retardation spastic diplegia/quadriplegia/tetraplegia ataxia diarrhea early death epilepsy extrapyramidal signs hearing defect, deafness irritability mental retardation MRI, brain, abnormalities [-] onset, infancy ophthalmoplegia progressive neurologic defect pyramidal signs respiratory insufficiency seizures strokelike episodes |