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27 Cards in this Set
- Front
- Back
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1000x inc risk of developing skin CA
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Xeroderma pigmentosa
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Alcoholics --> B1 deficiency --> neurologic defects
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Pyruvate dehydrogenase deficiency
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Abnormal collagen type 1 synthesis
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Osteogenesis imperfecta
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Absence of aldolase B
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Fructose intolerance
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Defective excision repair --> thymidine dimer formation
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Xeroderma pigmentosa
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Deficiency of cystathionine synthase
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Homocystineurea
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Heinz bodies
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G6P dehydrogenase deficiency
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Musty/mousy odor, albinism, MR, Eczema
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PKU
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Galactose-1P uridyl transferase deficiency --> MR, HSM, cataracts
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Galactosemia
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Rx --> no Nutrasweet, increased dietary tyrosine
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PKU
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Deficiency of tyrosinase
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Albinism
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Hyperextensible skin, loose joints, bleeding tendency
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Ehlers Danlos
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Decreased NADPH due to lack of HMP enzyme
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G6P dehydrogenase deficiency
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Inherited defect in tubular amino acid transporter
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Cystinurea
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Rx --> decreased dietary methionine, increased cystine + B6
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Homocystinurea
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Deficiency in homogentisic acid oxidase
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Alkaptonuria
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Hypoglycemia + jaundice + cirrhosis
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Fructose intolerance
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Self mutilation, gout, aggression, choreoathetosis
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Lesch nyhan syndrome
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Blocked degradation of branched chain amino acids
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Maple syrup urine disease
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Bloating, cramps, osmotic diarrhea
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Lactose intolerance
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Rx --> acetazolamide to alkalinize urine
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Cystinurea
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Deficiency results in a combined B and T cell deficiency
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Adenosine deaminase deficiency
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Rx --> decreased fructose and sucrose intake
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Fructose intolerance
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Rx --> increased intake of ketogenic nutrients
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Pyruvate dehydrogenase deficiency
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Dark brown urine, organs and CT, benign disease
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Alkaptonurea
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Multiple fractures + blue sclera
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Osteogenesis imperfecta
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Rx --> exclude galactose and lactose from diet
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Galactosemia
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