IEM Flashcards by Manas Tetarbe | Brainscape

Q

Isovaleric Acidemia

A

Odor of Sweaty Feet + CNS sx

Dx: Increased C5 acylcarnitine on state newborn screen; increased urine isovalerylglycine and isovaleric acid

Confirm: Decreased isovaleryl-CoA dehydrogenase activity

Tx: Administer L-Carnitine and Glycine

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Q

3-methylcrotonyl glycinuria

A

Urine odor similar to male cat urine

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Q

Propionic Acidemia

A

Def in propionyl-CoA carboxylase

Presentation: CNS Dysfunction, Vomiting.

+Hyperammonemia

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Q

Methylmalonic Acidemia

A

Def in Methylmalonyl-CoA isomerase

Presentation: CNS Dysfunction (worse outcomes than PA), Vomiting.

+Hyperammonemia

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Q

Glutaric Aciduria Type I

A

Def: Glutaryl-CoA dehydrogenase

Presents with Macrocephaly. Neuroimaging often reveals frontotemporal atrophy and delayed myelination

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