AP - Isolevaric Acidemia

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Last updated 8:34 AM on 9/25/26
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8 Terms

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isovaleryl-CoA dehydrogenase

A deficiency of the enzyme in Isovaleric Acidemia?

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sweaty feet

What odor does Isovaleric Acidemia produced?

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metabolic acidosis

vomiting in isovaleric acidemia is usually accompanied by

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  1. Metabolic Acidosis

  2. Mild to moderate ketonuria

  3. Hyperammonemia

  4. Thrombocytopenia

  5. Neutropenia


Possible manifestation in Isovaleric Acidemia

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Hyperammonemia

increased ammonium levels

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Neutropenia

decrease in white blood cell counts

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  1. Protein restrictive diet

  2. Oral administration of Glycine & Carnitine supplementation


treatment for isovaleric acidemia

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  1. Mass spectrometry (MS/MS)

  2. Chromatography


Methods to determine Isovaleric Acidemia