Organic acidemias Flashcards

1
Q

What is the metabolism defect in organic acidemias?

A

Protein

defect in aa breakdown leads to accumulation of organic acid byproducts

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2
Q

What disorders are included in organic acidemias?

A
  1. Propionic
  2. Methylmalonic
  3. Isovaleric
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3
Q

What is the most common presentation of organic acidemias?

A

Metabolic acidosis with anion gap

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4
Q

What are other common presentations of organic acidemias?

A

Neonatal lethargy, vomiting, coma, stroke, death

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5
Q

What laboratory test should be done in organic acidemias?

A

Urine organic acids

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6
Q

What other tests can be done in organic acidemias?

A

Newborn screen

Plasma acylcarnitines

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7
Q

What is the acute treatment of organic acidemias?

A
  1. D10NS IV
  2. Early use of fluids
  3. No protein
  4. IV lipid emulsion
  5. Dialysis may be needed in sick neonate
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8
Q

What is the chronic management of organic acidemias?

A
  1. Low-protein diet
  2. Supplemental medical food
  3. Carnitine
  4. Liver transplantation
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