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10 Cards in this Set

  • Front
  • Back
What is a metabolic disease to a geneticist?
An inborn error of metabolism.
What is the cause of alkaptonuria?
Black urine is caused by the build-up of homogentisic acid (HGA) as a result of a deficiency in homogentisate 1,2-dioxygenase. (Produces a melanin like substance; a tyrosine disorder.)
What triad is associated with alkaptonuria?
HGA in urine, ochronosis, and arthritis
What's an appropriate treatement for galactosemia?
Restriction of galactose
What's an appropriate treatment for PKU?
restriction of phenylalanine
What's an appropriate treatment for 21-hydroxylase deficiency CAH?
supplementation of glucocorticoid with hydroxycortisone and mineralcorticoid with fludrocortsone
What's an appropriate treatment for Smith-Lemli-Opitz syndrome?
replacement of dietary cholesterol
What's an appropriate treatment for MCAD?
avoidance of fasting
What's an appropriate treatment for hereditary hemochromatosis?
phlebotomy
What's an appropriate treatment for Wilson's disease?
chelation of excess copper