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MRCOG part 2 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

PKU inheritance

A

Autosomal recessive

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2
Q

Prevalence of PKU

A

1 in 10000

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3
Q

Effects of PKU

A

Cardiac malformation
Epilepsy
Brain underdevelopment

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4
Q

Physiology of PKU

A

Deficiency of phenylalanine

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5
Q

PA level and tyrosine levels in PKU

A

.

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6
Q

What doesn hyperphenylalaninaemia

A

Interferes with myelin synthesis

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7
Q

Which chromosome house PKU

A

12

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MRCOG part 2 (15 decks)

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