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3 Cards in this Set

  • Front
  • Back

describe glutamine synthetase deficiency

extremely rare (only 2 cases)


consanguineous turkish parents


fatal (2 days and 4 weeks)


multiple symptoms

describe ornithine aminotransferase deficiency

error of ornithine metabolism


rare, autosomal recessive


myopia in childhood


night blindness


totally blind by 45-65 years old

describe effects of high levels of homocysteine

cardiovascular disease