Other Names for this Disease
- Glycinemia, ketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Ketotic glycinemia
- Ketotic hyperglycinemia
- PCC deficiency
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Your QuestionDoes propionic acidemia carry risk factors for hearing loss, especially progressive hearing loss?
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In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.
Last updated: 12/23/2010
Very limited information was available on this subject; however, one article noted that an elevated incidence of deafness has been observed in patients with propionic acidemia. The authors state 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: 12/23/2010
- Propionic acidemia. Genetics Home Reference. July 2007; http://ghr.nlm.nih.gov/condition/propionic-acidemia. Accessed 3/30/2011.
- 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.