Aminoacidopathies Flashcards

1
Q

What is the metabolism defect for aminoacidopathies?

A

Protein

defect in aa breakdown leading to accumulation of certain intact amino acids

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2
Q

What are some types of aminoacidopathies?

A
  1. Maple syrup urine
  2. Phenylketonuria
  3. Homocystinuria tyrosinemia
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3
Q

What is the most common presentation features of aminoacidopathies?

A

No acidosis or hyperammonemia

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4
Q

What are other features on presentation in aminoacidopathies?

A

Elevations in specific amino acids

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5
Q

What is the laboratory test for aminoacidopathies?

A

Plasma amino acid

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6
Q

What other tests can be done for aminoacidopathies?

A

Newborn screen

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7
Q

What is the acute management of aminoacidopathies?

A

For maple syrup urine disease, similar to organic acidemias

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8
Q

What are the chronic management for aminoacidopathies?

A
  1. Restrict offending amino acid
  2. Supplemental food
  3. Monitor plasma amino acids
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