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CLINICAL MICROSCOPY > BRANCHED-CHAIN AMINO ACID DISORDERS > Flashcards

BRANCHED-CHAIN AMINO ACID DISORDERS Flashcards

1
Q

MOST COMMON INBRON ERROR OF METABOLISM IN THE PHILIPPINES

A

MAPLE SYRUP URINE DISEASE

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2
Q

DEFECT IN MSUD

A

Absence of the gene that code for metabolism of the ketoacids of LEUCINE, ISOLEUCINE, VALINE (INCREASED LVLS IN BLOOD and URINE)

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3
Q

URINE ODOR IN MSUD

A

Caramelized sugar
Maple syrup
Curry

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4
Q

MSUD: SCREENING TEST + RESULT

A

2,4-dinitophenylhydrazine (DNPH): (+) Yellow turbidity/precipitate

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5
Q

MSUD: CONFIRMATORY TESTS

A

Gas or thin lauer chromatography

Nuclear magnetic resonance spectophotometry

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6
Q

ORGANIC ACIDEMIAS

A

Isovaleric or glutaric acidemia
Propionic acidemia
Methylmalonic acidemia

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7
Q

TEST FOR METHYLMALONIC ACIDEMIA

A

p-nitroaniline test: (+) emerald green color

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CLINICAL MICROSCOPY (13 decks)

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