In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.[1]
Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.[1]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) |
| Aminoaciduria | 90% |
| Cognitive impairment | 90% |
| Seizures | 50% |
| Cerebellar hemorrhage | 5% |
| Autosomal recessive inheritance | - |
| Bone marrow hypocellularity | - |
| Coma | - |
| Dehydration | - |
| Hyperglycinuria | - |
| Ketoacidosis | - |
| Lethargy | - |
| Leukopenia | - |
| Metabolic acidosis | - |
| Pancytopenia | - |
| Thrombocytopenia | - |
| Vomiting | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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My child was diagnosed with isovaleric acidemia and is currently being treated with carnitine three times daily. I wanted to know if there were cures for this disease. See answer
My grandson was diagnosed with IVA at birth. He seems to be quite healthy. He's 8 years old, very active and grades are great at school. His diet is mostly potatoes and fruit. He will not eat meat or poultry, but on some occasions. Will this condition be with him throughout his life, or is it possible that it will clear up? See answer
My baby died 13 days after birth. The doctors performed some blood tests which indicated that the baby had isovaleric acidemia. Additional testing, only available in the UK was recommended. Unfortunately, the lab would not accept blood without urine. What are the chances that my future child(ren) will also have this condition? See answer
