Clinical Signs and Symptoms
ORPHA:20 3-hydroxy-3-methylglutaric aciduria
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.
- 3-Methylglutaric aciduria HP:0003344
- Hyperammonemia HP:0001987
- Metabolic acidosis HP:0001942
- Nonketotic hypoglycemia HP:0001958
Very frequent
- Anemia HP:0001903
- Anorexia HP:0002039
- Apathy HP:0000741
- EEG abnormality HP:0002353
- Elevated hepatic transaminase HP:0002910
- Episodic vomiting HP:0002572
- Hepatomegaly HP:0002240
- Hyperuricemia HP:0002149
- Increased serum lactate HP:0002151
- Lethargy HP:0001254
- Lipid accumulation in hepatocytes HP:0006561
- Muscular hypotonia HP:0001252
- Prolonged prothrombin time HP:0008151
- Recurrent hypoglycemia HP:0001988
- Reye syndrome-like episodes HP:0006582
- Seizures HP:0001250
- Tachypnea HP:0002789
Frequent
- Apnea HP:0002104
- Coma HP:0001259
- Dehydration HP:0001944
- Diarrhea HP:0002014
- Edema HP:0000969
- Encephalopathy HP:0001298
- Fatigue HP:0012378
- Fever HP:0001945
- Hyporeflexia HP:0001265
- Hypotension HP:0002615
- Hypsarrhythmia HP:0002521
- Intellectual disability, mild HP:0001256
- Intellectual disability, moderate HP:0002342
- Intellectual disability, severe HP:0010864
- Jaundice HP:0000952
- Ketonuria HP:0002919
- Leukocytosis HP:0001974
- Leukopenia HP:0001882
- Myoclonus HP:0001336
- Pallor HP:0000980
- Thrombocytosis HP:0001894
- Weight loss HP:0001824
Occasional
- Acute pancreatitis HP:0001735
- Ataxia HP:0001251
- Cardiac arrest HP:0001695
- Dilated cardiomyopathy HP:0001644
- Dysarthria HP:0001260
- Hypoglycemic coma HP:0001325
- Hypothermia HP:0002045
- Leukoencephalopathy HP:0002352
- Microcephaly HP:0000252
- Spastic hemiparesis HP:0011099
- Spasticity HP:0001257
Rare
Additional information
Further information
Specialised Social Services
Warning
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.