About
Ethylmalonic encephalopathy (EME) is an inherited condition that affects many systems of the body. Usually, signs of EME are evident at birth or begin in the first few months of life. Signs of EME include progressively delayed development, cardiovascular problems, weak muscle tone, seizures, abnormal movements, rashes of tiny red spots, blue discoloration in hands and feet, and chronic diarrhea. Early detection and proper treatment may help delay some of the serious health outcomes associated with the condition.
Condition Type:
Secondary
Frequency:
Ethylmalonic encephalopathy (EME) is a very rare condition that has only been documented in 30 individuals worldwide. EME appears to occur more often in Arab and Mediterranean populations.
More Information for Parents:
Also known as:
- EME
- Encephalopathy, petechiae, and ethylmalonic aciduria
- EPEMA syndrome
- EE
- Ethylmalonic acidemia
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)