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 (B)</p> Signup and view all the answers

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

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

What is the incidence of ALD estimated to be?

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

What is a common neurological symptom of Adrenoleukodystrophy?

<p>Seizures (C)</p> Signup and view all the answers

What is the pattern of inheritance of Adrenoleukodystrophy?

<p>X-linked (A)</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% (B)</p> Signup and view all the answers

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

<p>Heterogeneity (C)</p> Signup and view all the answers
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