Propionic acidemia
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Describe the disease frequency, pathophysiology, clinical presentation, diagnostic protocols, and treatment/prognosis:
Propionic acidemia
Sample Solution
Propionic acidemia (PA) is an autosomal recessive disorder caused by a deficiency of the enzyme propionyl CoA carboxylase which results in increased levels of the organic compound propionic acid. It has been estimated to affect 1:50,000 -1:100,000 individuals worldwide (Lambert et al., 2017).
The most common clinical presentation associated with this condition includes episodes of vomiting and diarrhoea; hypotonia; lack of appetite; poor feeding habits; weight loss and developmental delay. Other symptoms can include seizures, behavioural problems, intellectual disability, fatty liver disease and hearing loss (Austin et al., 2016).
Diagnosis for PA involves performing routine blood tests such as plasma amino acid analysis or acylcarnitine profiling in order to identify elevated levels of certain compounds while genetic testing can be used to verify any mutations related to this condition.
Treatment typically involves providing adequate nutrition along with medications or supplements that help reduce any accompanying symptoms that may occur due to this disorder such as seizures or difficulty walking. Prognosis tends to vary from one individual to another but generally speaking many affected people are able to lead normal lives without major complications arising from it.( Austin et al., 2016).