The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of the renal tubule | 90% |
| Anorexia | 90% |
| Dehydration | 90% |
| Hyperammonemia | 90% |
| Nausea and vomiting | 90% |
| Reduced consciousness/confusion | 90% |
| Respiratory insufficiency | 90% |
| Cognitive impairment | 50% |
| Feeding difficulties in infancy | 50% |
| Hepatomegaly | 50% |
| Leukopenia | 50% |
| Muscular hypotonia | 50% |
| Neurological speech impairment | 50% |
| Splenomegaly | 50% |
| Thrombocytopenia | 50% |
| Abdominal pain | 7.5% |
| Abnormality of neutrophils | 7.5% |
| Anemia | 7.5% |
| Chorea | 7.5% |
| Hemiplegia/hemiparesis | 7.5% |
| Hypertrophic cardiomyopathy | 7.5% |
| Incoordination | 7.5% |
| Intracranial hemorrhage | 7.5% |
| Optic atrophy | 7.5% |
| Pancreatitis | 7.5% |
| Renal insufficiency | 7.5% |
| Seizures | 7.5% |
| Sepsis | 7.5% |
| Cerebellar hemorrhage | 5% |
| Abnormality of the globus pallidus | - |
| Autosomal recessive inheritance | - |
| Cardiomyopathy | - |
| Coma | - |
| Delayed CNS myelination | - |
| Failure to thrive | - |
| Hyperglycinemia | - |
| Lethargy | - |
| Metabolic ketoacidosis | - |
| Methylmalonic acidemia | - |
| Methylmalonic aciduria | - |
| Stage 5 chronic kidney disease | - |
| Tubulointerstitial nephritis | - |
| Vomiting | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
