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5 Cards in this Set
- Front
- Back
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Aggamaglobulinemia Granulomatous Hunter syndrome |
Some IEM are xlinked recessive |
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Hyperlipedia |
Autosomal dominant |
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Biochemical test for screening IGE |
Ames test Paper impregnated in ferric chloride react with phenyalanine Guthrie test Growth of b subtilis Indicate high level of phenyalanine |
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Acute metabolic crises |
Life treatening Eg urea cycle disorder In UCD Nitrogen accumulate in form of ammonia Symptoms Appear unaffected at birth In few dayz respiratory distress coma Untreated death Treatment Phenyalanine restricted diet Give tyrosine supplement Adequate nutritional supplement 4 growth |
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Metabolism of tyrosine |
Takes place in d liver |
