PROPIONIC ACIDEMIA

"right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations", by . f0005: Magnetic resonance imaging (MRI) of the brain of a 29 year old patient with propionic acidemia and neuropsychiatric manifestations showing right frontal lobe encephalomalacia in sagittal T 1 (A) and axial T 2 (B)...

Propionic acidemia is uncommon metabolic disorder impacting from 1/20,000 to 1/250,000 people in numerous areas of the globe. Propionic acidemia is acquired in an autosomal recessive pattern. People with this condition need to follow a specific diet regimen consisting of a low protein intake and specific food formulas. Liver transplant is a medical option that can help decrease the regularity of acute metabolic episodes. About 30% of affected infants may also develop seizures. In some affected infants, episodes of symptoms might alternate with durations of evidently normal health and development. Without proper treatment, episodes of vomiting, sleepiness, dehydration, and accumulation of extreme levels of acids in the blood and bodily tissues might lead to coma and fatality [1-4] As patients age, they can experience different symptoms impacting almost all organ systems. Affected individuals can also have a lowered number of cells in their blood, such as lowered red blood cells, decreased leukocyte, lowered platelets, or a reduced variety of all cell types. These blood irregularities can cause different symptoms, such as immune shortage or bleeding problems. People with propionic acidemia are at an increased risk of having a stroke as early as a couple of weeks of age [4-10] Less frequently, propionic acidemia may emerge in childhood or later in life [11-13] These affected people might not experience sudden, acute episodes of acidosis and often tend to find to clinical attention due to neurological symptoms such as intellectual disability or cardiomyopathy.

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