Paeds metabolic

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Author:
jzm4mdd
ID:
166192
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Paeds metabolic
Updated:
2012-08-27 05:31:58
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metabolic
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metabolic
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  1. PKU
    AR
  2. G6PDH deficency
    XL recessive
  3. Alkaptonuria
    Symptomless in childhood it produces homogentisic aciduria. An autosomal recessive condition, ochronosis develops later in life with or without arthritis
  4. Maple syrup urine disease
    Neurological disturbances appear soon after birth. There are increased amounts of valine, isoleucine, and leucine in blood and urine, due to a defect in the metabolism of these branched chain amino-acids.
  5. mechanism of maple syrup urine disease?
     decreased a-ketoacid dehydrogenase --> can't degrade branched aa's (Ile, Leu, Val)- buildup causes CNS defects, MR, death- "I Love Vermont maple syrup from maple trees with branches"
  6. Homocystinuria
    • hypercoagulability and premature atherosclerosis! - also tall MR etc.
    • - #1 cause is cystathionine beta sythesis - get premature atherosclerosis osteoperosis and MR - dont make cysteine
  7. Homocystinuria
    Mental retardation, fair hair, lens dislocation.
  8. Galactosaemia
    Causes irreversible brain damage if the diagnosis is not made early, and the child is not placed on a lactose free diet.
  9. Galactosaemia
    • -defiency of galactose 1 phosphate uridyltransferease (vomiting)
    • -treat with galactose and lactose free (if not MR)
    • -Autosomal Recessive
  10. Galactosaemia
    • Autosomal recessive
    • Cataracts do occur, usually bilaterally, and are reversible.
    • Galactosaemia is an important cause of prolonged jaundice in the neonate
    • It is a well recognised cause of hypoglycaemia
  11. Gaucher's disease
    B-Glucosidase deficiency
  12. Hexosaminidase A deficiency is associated Tay-Sachs disease.
    Hexosaminidase A deficiency is associated Tay-Sachs disease.
  13. Sphingomyelinase deficiency is associated with Niemann-Pick disease.
    Sphingomyelinase deficiency is associated with Niemann-Pick disease.
  14. Arylsulfatase-A deficiency is associated with metachromic leucodystrophy.
    Arylsulfatase-A deficiency is associated with metachromic leucodystrophy.
  15. Hurler's syndrome.
    A mucopolysaccharidosis, lysosomal storage disorder. Iduronidase deficiency

    • coarse facial features
    • skeletal and cardiac abnormalities
    • hepatosplenomegaly
    • physical and mental retardation.
  16. Hurler's syndrome
    She is hirsute with thick skin and nodules over her scapula and has coxa valga. Skull x ray shows absent frontal sinuses and deformed pituitary fossa.

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