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Basic genetics > Metabolomics > Flashcards

Metabolomics Flashcards

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Biology 101 flashcards
1
Q

What is a biomarker

A

A biological compound that aids in diagnosis of a disease a protein or metabolite

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2
Q

What is an inborn error of metabolism?

A

A defect in the metabolic pathway

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3
Q

Proximal and distal inborn error

A

Proximal- accumulation
Distal- decrease

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4
Q

Fabry disease

A

Affects males
Accumulation of CTH in vascular epitheliam
Deficiency in lysosomal enzyme a-galactosidase

Treatment
Enzyme replacement therapy

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Basic genetics (9 decks)

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