Isovaleric acidemia
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Describe the disease frequency, pathophysiology, clinical presentation, diagnostic protocols, and treatment/prognosis:
Isovaleric acidemia
Sample Solution
Isovaleric acidemia (IVA) is an autosomal recessive disorder caused by a deficiency of the enzyme isovaleryl Coenzyme A dehydrogenase which results in increased levels of the organic compound isovaleric acid. It has been estimated to affect 1:200,000 – 1:500,000 individuals worldwide (Lambert et al., 2017).
The most common clinical presentation associated with this condition includes episodes of vomiting and diarrhea; intellectual disability; hypotonia; poor feeding habits; failure to thrive and developmental delay. Other symptoms can include seizures, behavioral problems and fatty liver disease (Austin et al., 2016).
Diagnosis for IVA 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).