Adrenoleukodystrophy (X-ALD) - Medical Genetics

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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?

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

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

Successful treatment Signup and view all the answers

What is the incidence of ALD estimated to be?

1:18,000 to 1:50,000 Signup and view all the answers

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

Failure of peroxisomal fatty acid beta oxidation Signup and view all the answers

Which tissues are most severely affected by Adrenoleukodystrophy?

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

What is a common neurological symptom of Adrenoleukodystrophy?

Seizures Signup and view all the answers

What is the pattern of inheritance of Adrenoleukodystrophy?

X-linked Signup and view all the answers

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

50% Signup and view all the answers

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

Heterogeneity Signup and view all the answers