Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 11
   1. Question 1
   2. Question 2

Question 2

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Inborn errors of metabolism

Options:

1. Branched chain amino acid metabolism
2. Fatty acid oxidation
3. Glycogen synthesis
4. Low density lipoprotein (LDL) receptor
5. Lysosomes
6. Mitochondria
7. Peroxisomes

Match the following disorders with the organelles or pathway in which the basic defect lies.

1

Scenario 1   Tay-Sachs disease Choose... Branched chain amino acid metabolism Fatty acid oxidation Glycogen synthesis Low density lipoprotein (LDL) receptor Lysosomes Mitochondria Peroxisomes Lysosomal disorders usually manifest as accumulation and storage of a metabolite or substrate. Clinical presentation is with physical consequences (coarseness and hepatosplenomegaly) and progressive neurodegeneration. See Page 214.Incorrect. See Page 214.Your answer has been saved.

2

Scenario 2   Medium chain acyl-CoA dehydrogenase (MCAD) deficiency Choose... Branched chain amino acid metabolism Fatty acid oxidation Glycogen synthesis Low density lipoprotein (LDL) receptor Lysosomes Mitochondria Peroxisomes Disorders of fatty acid oxidation are associated with recurrent hypoglycaemia, failure to thrive, and sometimes metabolic collapse leading to coma and death. See Page 212.Incorrect. See Page 212.Your answer has been saved.

3

Scenario 3   X-linked adrenoleukodystrophy Choose... Branched chain amino acid metabolism Fatty acid oxidation Glycogen synthesis Low density lipoprotein (LDL) receptor Lysosomes Mitochondria Peroxisomes X-linked adrenoleukodystrophy is caused by defeiciency of a specific peroxisomal membrane protein necessary for the breakdown of very long chain fatty acids. See Page 217.Incorrect. See Page 217.Your answer has been saved.

4

Scenario 4   Maple syrup urine disease Choose... Branched chain amino acid metabolism Fatty acid oxidation Glycogen synthesis Low density lipoprotein (LDL) receptor Lysosomes Mitochondria Peroxisomes The branched chain amino acids are valine, leucine, and isoleucine. Elevated levels in urine give a smell similar to that of maple syrup. See Page 211.Incorrect. See Page 211.Your answer has been saved.

5

Scenario 5   Kearns-Sayre syndrome Choose... Branched chain amino acid metabolism Fatty acid oxidation Glycogen synthesis Low density lipoprotein (LDL) receptor Lysosomes Mitochondria Peroxisomes This condition is caused by large deletions in mitochondrial DNA. See Page 216.Incorrect. See Page 216.Your answer has been saved.