Clinical Signs and Symptoms
ORPHA:2394 Pyruvate dehydrogenase E3 deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Elevated hepatic transaminase HP:0002910
- Elevated plasma branched chain amino acids HP:0008344
- Feeding difficulties HP:0011968
- Hepatic encephalopathy HP:0002480
- Hepatomegaly HP:0002240
- Hypercoagulability HP:0100724
- Hypoglycemia HP:0001943
- Increased urine alpha-ketoglutarate concentration HP:0012402
- Lethargy HP:0001254
- Seizures HP:0001250
- Spasticity HP:0001257
- Abnormal cardiac ventricular function HP:0030872
- Ataxia HP:0001251
- Behavioral abnormality HP:0000708
- Cardiomyopathy HP:0001638
- Decreased plasma carnitine HP:0003234
- Failure to thrive HP:0001508
- Hepatic failure HP:0001399
- Hyperammonemia HP:0001987
- Hyperisoleucinemia HP:0010913
- Microcephaly HP:0000252
- Muscle spasm HP:0003394
- Reduced visual acuity HP:0007663
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.