- Propionyl-CoA carboxylase deficiency
- PCC deficiency
- Glycinemia, ketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Ketotic hyperglycinemia
Most of the time, individuals with propionic acidemia have symptoms within a few days after they are born (neonatal-onset). They usually experience poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). Sometimes symptoms can become more serious and lead to heart abnormalities, seizures, coma, and possibly death.
There is another form of propionic acidemia that is less common and the symptoms appear during childhood (late-onset). The symptoms are similar to the neonatal-onset form of this disorder, but the symptoms may also come and go over time. More serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections. Some children with this form of propionic acidemia experience intellectual disability, delayed development, or developmental regression (where the child looses skills over time).
The Human Phenotype Ontology provides the following list of signs and symptoms for Propionic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Propionic Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; http://www.newbornscreening.info/Parents/organicaciddisorders/PA.html#4. Accessed 3/30/2011.
- Propionic acidemia. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/propionic-acidemia.