M2C 2 conditions

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6 Terms

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alkaptonuria

  • enzyme deficiency that results in dark tissue and urine due to accumulation of homogentisic acid

  • AR inheritance

  • deficient in homogentisic dioxygenase enzyme

  • treated by:

    • NTBC- blocks conversion of 4-hydroxyphenylpyruvate to homegentisic acid

    • vitamin c inhibits deposition of HGA in connective tissues


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PKU

  • deficient in PAH

  • AR

  • first NBS condition

  • protein metabolism condition

  • disorder of intoxication

  • phe builds up over time - prolonged elevated phe interferes w nl brain fx

  • basis of treatment: reducing the amnt of phe coming into the body by limiting phe in diet


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