Definition:
Ethylmalonic aciduria also called as Organic academia and organic aciduria, this disease is a metabolic disorders. That affects the amino acid breakdown. The alteration of amino acids metabolism can affect not just one organ but the whole organs of the body. There are four types of ethylmalonic aciduris, these are the methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.[1]
Diagnosis:
Ethylmalonic aciduria is always diagnosed during infancy. It is usually detected through urine sample by gas chromatogra - mass spectrometry, the appearance of the urine is not normal. This disease also identify by newborn screening with a tandem mass spectrometry perform during the week of the newborn.
Treatment:
There is no specific treatment of ethylmalonic aciduria found. But there are some interventions that help possible treatment of the disorder, this may include low protein and high carbohydrate diet, intravenous fluids therapy, vitamin supplementation inrake, and tube feeding.
Symptoms and Signs:
The urine of the patient is not normal; it has strange amount or type of organic acids. Developmental delay also seen in this patient like slow growth and poor feeding.
Causes:
Most common cause of this disease is an autosomal genes that is inherited in the family. A Neurological and physiological injury are also causes ethylmalonic aciduria.
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