Adrenoleukodystrophy (X-ALD) - Medical Genetics
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Questions and Answers

What is the characteristic of the childhood cerebral form of ALD?

  • Rapid degeneration from birth
  • Progressive paraparesis in early adulthood
  • Normal development in early childhood, followed by rapid degeneration (correct)
  • Adrenal insufficiency alone

    • What is the genetic cause of ALD?

  • Mutations in a gene located on the Y chromosome
  • Mutations in a gene located on the X chromosome (correct)
  • Mutations in a gene located on chromosome 1
  • Mutations in a gene located on chromosome 22

    • What is the characteristic biochemical feature of ALD?

  • High levels of unbranched, saturated, very long chain fatty acids (correct)
  • High levels of branched, unsaturated fatty acids
  • Low levels of unbranched, saturated fatty acids
  • Low levels of branched, unsaturated fatty acids

    • What is the correlation between the level of cerotic acid in plasma and clinical presentation?

    <p>The level of cerotic acid in plasma does not correlate with the clinical presentation</p> Signup and view all the answers

    What is the treatment option for adrenal insufficiency in ALD patients?

    <p>Successful treatment</p> Signup and view all the answers

    What is the incidence of ALD estimated to be?

    <p>1:18,000 to 1:50,000</p> Signup and view all the answers

    What is the primary cause of fatty acid buildup in Adrenoleukodystrophy?

    <p>Failure of peroxisomal fatty acid beta oxidation</p> Signup and view all the answers

    Which tissues are most severely affected by Adrenoleukodystrophy?

    <p>Myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes</p> Signup and view all the answers

    What is a common neurological symptom of Adrenoleukodystrophy?

    <p>Seizures</p> Signup and view all the answers

    What is the pattern of inheritance of Adrenoleukodystrophy?

    <p>X-linked</p> Signup and view all the answers

    What percentage of heterozygote females are likely to show some symptoms of Adrenoleukodystrophy later in life?

    <p>50%</p> Signup and view all the answers

    What is the term for the variation in symptoms and severity of Adrenoleukodystrophy?

    <p>Heterogeneity</p> Signup and view all the answers

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