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10 Cards in this Set

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What is alkaptonuria?
This is ochronosis, and is caused by the excess accumulation of homogentisic acid.
What causes this?
It results in a block in the metabolism of the phenylalanine tyrosine pathway, which is caused by a deficiency in homogentisic oxidase.
What is the result of excess homogentisic acid?
It causes the urine to turn dark upon standing after a period of time. It also causes a dark coloration, of the scleras, tendon and cartilage. A degenerative arthritis often follows.
What is phenylketonuria?
PKU also known as hyperphenylalaninemia, results from a deficiency of phenyalanine hydroxlase, an enzyme that oxidizes phenylalanine to tyrosine in the liver.
Are infants normal at birth?
Yes. But rising phenylalanine levels results in irreversible brain dadmge. The excess phenyacetic acid in the urine gives it a mousy odor.
What is the result of a lackm of the enzyme fumarylacetoacetate hydrolase?
Tyrosinemia. Chronic forms are associated with cirrhosis of the liver, kidney dysfunction, and a high risk of hepatocellular carcinoma.
What is maple syrup urine disease?
It is associated with an enzyme defect that causes the accumulation of branched chain alpha keto acid derivatives of isoleucine, leucine and valine.
Albinisn refers to what?
To a group of disorders characterized by an abnormality of the synthesis of melanin.
Two forms of oculocutaneous albinism are classified by what?
By the presence or absence of tyrosinase, which is the first enzyme in the conversion of tyrosine to melanin.
Albvinos are at a much increased risk for the development of squamous cell carcinoma in sun exposed skin. T/F
TRUE.