Ethylmalonic encephalopathy
Rare disease
Yes
- Definition
- Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Ethylmalonic encephalopathy
- ethylmalonic encephalopathy
- EE
- EPEMA syndrome
- eme
- encephalopathy, ethylmalonic
- encephalopathy, petechiae, and ethylmalonic aciduria
- syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
- Severity
- Severe
- Genetic
- Hereditary
- MONDO ID
- MONDO:0011229
- Parent condition
- MONDO:0044970
Related records
Broader conditions (8)
- Disease
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Hereditary disease
- Human disease
- Mendelian encephalopathy
- Mitochondrial disease
Trials (46)
- A Multi-center, Randomized, Double-blind Phase III Clinical Trial to Assess and Compare to the Efficacy and Safety of Lafutidine, Famotidine and Omeprazole-referenced in Korean Erosive Esophagitis Patients
- A Multicenter, Randomized, Double Blind, Double Dummy, Parallel-Group Efficacy Study Comparing 8 Weeks of Treatment With Esomeprazole Magnesium (40mg qd) to Lansoprazole (30mg qd) for the Healing of Erosive Esophagitis in Patients With Moderate or Severe Erosive Esophagitis
- A Randomized, Double-Blind, Multicenter Study to Evaluate the Acid-inhibitory and Dose-response Efficacy of TAK-438 (20 mg, 40 mg) in Patients With Proton Pump Inhibitor (PPI) - Resistant Erosive Esophagitis
- A Study in Patients With Erosive Esophagitis to Investigate Safety, Tolerability, and Healing Rates After 4 Weeks Treatment of X842 or Lansoprazole and Symptom Pattern During Subsequent 4 Weeks Treatment With Lansoprazole
- A Study of the Safety of Vonoprazan Exposure in Pregnant Women and Their Offspring
- A Study to Check the Safety of Dexlansoprazole and Learn If it Can Heal Erosive Esophagitis (EE) and Keep it Healed in Children 2 to 11 Years Old
- A Study to Compare the Pharmacokinetic Characteristics of CJ-12420
- A Study to Evaluate the Efficacy and Safety of BLI5100 in Patients With Erosive Esophagitis
- A Study to Evaluate the Long-Term Safety of BLI5100 in Patients With Gastroesophageal Reflux Disease
- A Study to Evaluate the Safety, Tolerability and Pharmacokinetics/Pharmacodynamics of Oral Doses of H008
- A Study to Evaluate Vonoprazan Concentrations in Breast Milk of Healthy Lactating Women Receiving Vonoprazan 20 mg Once Daily or Vonoprazan 20 mg Twice Daily
- Bioequivalence Study to Compare Vonoprazan 20 mg Film Coated Tablets Versus Voquezna® 20 mg (Vonoprazan) Tablets
- Clinical Trial to Assess the Efficacy and Safety of YYD601 in the Treatment of Esophageal Reflux Disease (ERD)
- Confocal Endomicroscopy for Permeability of Esophageal Wall in Refractory Gastroesophageal Reflux Disease (GERD)
- Efficacy and Safety of Dexlansoprazole in Healing and Maintaining Healing of Erosive Esophagitis
- Efficacy and Safety of LXI-15028 Comparing With Esomeprazole in the Treatment of Erosive Esophagitis
- Efficacy and Safety of Oral Once-Daily Vonoprazan (TAK-438) in Participants With Erosive Esophagitis
- Efficacy and Safety of Vonoprazan Compared to Lansoprazole in Participants With Erosive Esophagitis
- Efficacy and Safety of Vonoprazan Compared to Lansoprazole in the Maintenance Treatment of Erosive Esophagitis
- Efficacy of TAK-438 Compared to AG-1749 (Lansoprazole) in the Maintenance Treatment of Healed Erosive Esophagitis