Test 10. Metabolic Disorders

1. The pathology illustrated is caused by: Leukodystrophy

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

2. The change illustrated is due to: Lysosomal Storage Disease

A. Lysosomal storage disorder B. Mitochondrial disorder C. Peroxisomal disorder D. Neurodegenerative disease

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

A. Leukodystrophies B. Mitochondrial disorders C. Mucopolysaccharidoses D. Organic acidurias

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

A. Metachromatic leukodystrophy B. Adrenoleukodystrophy C. Krabbe disease D. Alexander disease

5. The pathology illustrated is caused by: Zellweger Syndrome

A. A lysosomal disorder B. A peroxisomal disorder C. A mitochondrial disorder D. An organic aciduria

6. Which is X-linked?

A. Proteolipid protein (PLP) 1 abnormality B. GFAP mutation C. eIF2B mutation D. Arylsulfatase A mutation

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

A. mtDNA defects B. nDNA defects

8. A metabolic disorder characterized by macrocephaly, developmental delay, and elevated N-acetylaspartate in urine is:

A. Alexander disease B. Canavan disease C. Krabbe disease D. Metachromatic leukodystrophy

9. A 2-year-old child presents with developmental regression, hypotonia, seizures, and optic atrophy. MRI shows bilateral symmetric lesions in the basal ganglia. This clinical profile is most consistent with:

A. Leigh syndrome (nDNA defect) B. MELAS syndrome C. MERRF syndrome D. Kearns-Sayre syndrome

10. Cardiomyopathy is caused by:

A. Some lysosomal storage disorders B. Some mitochondrial disorders C. Both of the above D. Neither of the above

11. Which of the following causes vascular disease?

A. Homocystinuria B. Phenylketonuria C. Maple syrup urine disease D. Galactosemia

Test 10

Metabolic Disorders

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