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5 Cards in this Set

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NADPH oxidase deficiency causes ____?
chronic granulomatous disease; severe, persistent pyogenic infections
Hexokinase or glucokinase?

Which is found in liver, which is found throughout body?
Hexokinase is throughout body.

Glucokinase is primarily in the liver.
Black urine upon standing, dark connective tissue, debilitating arthralgia. Otherwise benign.
Alkaptonuria
Defect in alkaptonuria?
Deficiency of homogentisic acid oxidase in tyrosine degradation pathway.
What causes SCID and what does it cause?
Adenosine deaminase (ADA) deficiency.

Excess ATP/dATP somehow prevents DNA synthesis and thus decreases lymphocyte count (T and B cell immunodeficiency)