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Genetics > Homocystinuria > Flashcards

Homocystinuria Flashcards

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Biology 101 flashcards
1
Q

What causes homocystinuria?

A

Deficiency of cystathionine B-synthetase

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2
Q

What substrate are you unable to break down if you have a deficiency of cystathionine B-synthetase?

A

methionine

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3
Q

How is homocystinuria inherited?

A

Autosomal recessive

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4
Q

Name 7 features of homocystinuria

A
  1. No acute decompensation
  2. Intellectual disability
  3. Tall stature
  4. Osteoporosis
  5. Recurrent thombosis
  6. Ectopia lentis
  7. Psychological/behavioural disorders
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5
Q

How do you diagnose homocystinuria?

A

High serum homocystine, and high methionine in urine,

also can be detected by NB screening

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6
Q

Name 4 tx measures for homocystinuria

A
  1. Minority respond to pyridoxine (vit B6)
  2. Betaine (decreases hemocystine)
  3. Apspirin tx for stroke prevention
  4. Dietary methionine restriction
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Genetics (22 decks)

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