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22 Cards in this Set
- Front
- Back
Arginase deficiency:
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arginemia
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ornithine aminotransferase deficiency
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gyrate atrophy
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histidine ammonia lyase deficiency
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histidinemia
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Glycine cleavage enzyme deficiency
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non-ketoic hyperglycemia
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Vit B12 deficiency
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Methionine synthase won't work - folate trapped in N5 methyl THF
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Methionine synthase deficiency:
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same.. Folate trapped in N5 methyl THF
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Methionine Synthase mutation:
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Neural tube defect.. Prevent with Vit B12/Folate
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Cystathione B-synthase deficiency:
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Homocystinuria
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Cystathione y-lyase deficiency:
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Cystathionuria
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Branched chain a-ketoacid dehydrogenase complex deficiency:
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Maple Sugar urine disease
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Phenylalanine Dehydrogenase deficiency:
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PKU classic
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Dihydrobiopterin Reductase deficiency:
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PKU Type IV
(and others.. Decr Norepi, Epi, Dopamine, Seratonin/Melatonin) |
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Tyrosine Aminotransferase deficiency:
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Tyrosinemia Type II
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p-Hydroxyphenylpyruvate Dioxygenase deficiency:
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Tyrosinemia Type III - asymptomatic
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Homogentisate 1,2-Dioxygenase deficiency:
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Alkaptonuria
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Fumaryloacetatetase deficiency:
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Tyrosinemia type I
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Tyrosinase deficiency:
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Albinism
|
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ALAD deficiency:
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-Buildup of ALA
-Non photosensitive |
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Acute intermittent porphyria
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-PBGD deficiency
-PBG accumulates -Not photosensitive |
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Congenital Erythropoeitic Porphyria
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UROS deficiency
-Uroporphrinogen I Accumulates -Photosensitive via spontaneous cyclization |
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Porphyria Cutanea tarda
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UROD deficiency
-Uroporphyrinogen III accumulates -Photosensitive |
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Hereditary Coproporphyria
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-CPO deficiency
-Coproporphrinogen Accumulates -Photosensitive |