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22 Cards in this Set

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