What are the signs and symptoms of propionic acidemia?
Propionic acidemia causes episodes of illness called metabolic crises. This is a serious health condition caused by the build-up of toxic substances in the blood.
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).
Last updated: 12/9/2015
Does propionic acidemia carry risk factors for hearing loss?
Hearing loss is considered to be a rare complication associated with propionic acidemia. Very limited information is available on this subject and conclusions by different research studies are conflicting. Two different research studies noted an elevated incidence of deafness in patients with propionic acidemia. Although less common than other symptoms, one study stated that 13% of their participants reported impaired hearing ability. This study concluded that there is likely a connection between propionic acidemia and hearing loss. Another study from 2008 stated that according to present knowledge, no connection can be assumed between either of the two mutations that cause propionic acidemia and the severe sensorineural hearing loss that has been reported. No additional information was found about potentially elevated incidence of hearing loss with this condition; therefore, it is not known if hearing loss may possibly be a symptom of the underlying disorder, if it may be caused by metabolic crisis and subsequent neurologic deficits, or if it may be related in some other way (if at all).
Last updated: 12/22/2015
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Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, et al.. Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases: January 10, 2013; http://www.ojrd.com/content/8/1/6. Accessed 12/22/2015.
Brosch S, Rauffeisen A, Baur M, Michels L, Trefz FK, Pfister M. Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?. HNO. January 2008; 56(1):37-42. http://www.ncbi.nlm.nih.gov/pubmed. Accessed 12/23/2010.