Test 10. Metabolic disorders

1. The pathology illustrated is caused by:
Leukodystrophy

A. A myelin lipid abnormality
B. A myelin protein abnormality
C. Both

2. The change illustrated is due to:
Neuronal storage

A. A lysosomal abnormality.
B. A peroxisomal abnormality
C. A mitochondrial abnormality
D. Could be caused by all of the above

3. Which of the following is associated with skeletal abnormalities?

A. Niemann-Pick type C
B. Neuronal ceroid lipofuscinosis
C. Mycopolysaccharidosis
D. Globoid cell leukodystrophy

*4. A 4 month old by has spasticity, irritability, seizures, and an arrest of neurological development. MRI shows diffuse white matter abnormality. The condition is most likely caused by:

A. ALDP deficiency
B. Arylsulfatase A deficiency
C. Galactocerebrosidase deficiency
D. Glucocerebrosidase deficiency

5. The pathology illustrated is caused by:
Zellweger syndrome

A. A lysosomal disorder
B. A peroxisomal disorder
C. A mitochondrial disorder
D. An amino acid disorder

*6. Which is X-linked?

A. Proteolipid protein 1 abnormality
B. GFAP mutation
C. eIEF2B mutation
D. Arylsulfatase A mutation

7. Ragged red fibers occur primarily in ETC disorders caused by:

A. Mitochondrial DNA abnormalities.
B. Nuclear DNA changes
C. Equally both

*8. Which of the following is associated with a large head?

A. ALD protein deficiency
B. Aspartoacylase deficiency
C. Arylsulfatase A deficiency
D. Proteolipid protein abnormality

*9. A 23 month old child has hypotonia, developmental regression, and abnormal signal in the basal ganglia and brainstem. Serum and CSF lactate is elevated. The condition is most likely transmitted:

A. From both parents
B. From the mother

10. Cardiomyopathy is caused by:

A. Some lysosomal storage disorders
B. Mitochondrial disorders
C. Both
D. Both

*11. Which of the following causes vascular disease?

A. Homocystinuria
B. Phenylketonuria
C. Hyperglycinemia
D. Maple serum urine disease