Large, Peroxisomal

Question 1

[Met/Perox/Zellweger]

Previous disease entities of Zellweger spectrum disorder? (3)

Answer 1

1. Zellweger syndrome
2. Neonatal adrenoleukodystrophy
3. Infantile Refsum disease

Question 2

[Met/Perox/Zellweger]

Characteristics of Zellweger spectrum disorder? (3)
- Age of onset
- Presentation

Answer 2

1. Newborn period or later in childhood
2. Distinctive facies
3. Degenerative process in brain (adrenoleukodystrophy), liver and kidney
   neuronal migration defects, neonatal-onset seizures
   renal cysts
   Liver disease
   bony stippling [chondrodysplasia punctata] of the patella and the long bones
   Retinal dystrophy

Question 3

[Met/Perox/Basic]

Examples of peroxisomal diseases in complex-molecule defects?

Answer 3

Zellweger spectrum disorder
X-linked adrenoleukodystrophy

Question 4

[Met/Perox/XALD]

[Large, peroxisomal - ALD]
Three subtypes of x-linked adrenoleukodystrophy?

Answer 4

Childhood cerebral form: early neurologic deterioration
Adrenomyeloneuropathy: adulthood neuropathy
Addison disease only: adrenocortical insufficiency

Question 5

[Met/Perox/XALD]

Two major organ affected and symptoms in x-linked adrenoleukodystrophy?

Answer 5

White matter: progressive neurologic impairment
Adrenal cortex: adrenocortical insufficiency