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9 Cards in this Set
- Front
- Back
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OTC deficiency
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X-linked, elevated blood ammonia, and increase in urinary oritic acid,
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Treatment for urea disorders
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low protein diet
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albinism
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autosomal dominant, autosomal recessive, or X linked
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most severe albinism
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autosomal recessive caused by tyrosinase deficiency
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PKU
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deficient in phenylalanine hydroxylase, phenylalanine accumulates and tyrosine is deficient
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PKU is most common
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amino acid disorder
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Alkapotunuria
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Homogentisate oxidase deficiency, builds up and forms polymers w air, urine darkens happens later in life
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deficient in branched chain
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leucine in blood
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Homocystinuria
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Most common cause is cystathionine synthase deficiency,Some patients with less severe deficiency respond to B6, B12 and
folate supplementation along with methionine restriction |
