Metabolics Flashcards by Chidera Nwaroh

Q

NAGMA Metabolic Acidosis

A

RTA
Galactosemia
HRI
Tyrosinemia

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Q

A

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Q

Features of small molecule inborn errors of metabolisms (IEM)

A

Acute presentation
Period of being healthy - can present in adolescence
Abnormalities in basic blood and urine investigations
Treatable with diet and or medications

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Q

Cause of Amino Acid Disorder Symptoms

A

accumulation of specific amino acids or related compound and/or deficiency of the end product

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Q

Metabolic state for acute symptoms Amino Acid Disorders

A

Catabolic state - predisposes to endogenous protein breakdown

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Q

Most Common Amino Acid Disorder

A

Phenylketonuria
Tyrosinnemia

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Q

Phenylketouria presentation

A

Chronic neurological injury

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Q

A

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