Mitochondrial Respiratory Chain Defects and Leigh Disease Quiz
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Mitochondrial Respiratory Chain Defects and Leigh Disease Quiz

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@SpiritedPiccolo

Questions and Answers

What is the typical age range for patients with Adolescent form ALD?

10-21 years old

Approximately what percentage of patients with Adolescent form ALD present acutely with status epilepticus or coma?

10%

What is the main difference in clinical manifestations between Childhood form ALD and Adolescent form ALD?

Progression rate

What percentage of male patients with Addison disease may have the biochemical defect of ALD in the Addison-only phenotype?

<p>25%</p> Signup and view all the answers

Which ALD phenotype manifests as a progressive paraparesis in late adolescence or adulthood?

<p>Adrenomyeloneuropathy</p> Signup and view all the answers

What characterizes Familial Hypercholesterolemia (FH)?

<p>Elevated LDL cholesterol, premature cardiovascular disease, and tendon xanthomas</p> Signup and view all the answers

Which of the following is a characteristic feature seen in muscle biopsy of patients with mitochondrial respiratory chain defects?

<p>Ragged red fibers</p> Signup and view all the answers

What is the main neuropathologic description of Leigh Disease?

<p>Gliosis</p> Signup and view all the answers

In fructose 1,6-biphosphate metabolism, what are the products of its hydrolysis?

<p>Triose phosphate and glyceraldehyde phosphate</p> Signup and view all the answers

Which of the following clinical manifestations is typically seen in patients with fructose metabolism disorders upon ingestion?

<p>Jaundice</p> Signup and view all the answers

Which of the following conditions may have a higher incidence in patients with fructose metabolism disorders?

<p>Celiac disease</p> Signup and view all the answers

Which lysosomal storage disease is characterized by the accumulation of glycosphingolipids leading to neurodegeneration and organomegaly?

<p>Gaucher Disease</p> Signup and view all the answers

What is the true incidence of Leigh Disease as per the text?

<p>1 in every 26,000 live births</p> Signup and view all the answers

Which lysosomal storage disease has 3 subtypes including an adult, nonneuronopathic form that is most common among Ashkenazi Jews?

<p>Gaucher Disease</p> Signup and view all the answers

In which form of Gaucher Disease do patients present with increased tone, strabismus, and organomegaly in infancy?

<p>Type 2</p> Signup and view all the answers

Which lysosomal storage disease results in failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course leading to death by 2-3 years of age?

<p>Niemann-Pick Disease Type A</p> Signup and view all the answers

Which lysosomal storage disease results from the deficiency of β-galactosidase activity and is characterized by the accumulation of GM1 gangliosides?

<p>GM1 Gangliosidosis</p> Signup and view all the answers

Which enzyme replacement therapy can be used as a treatment for Gaucher Disease?

<p>Enzyme replacement therapy with mannoseterminated recombinant human acid β-glucosidase</p> Signup and view all the answers

What distinguishes Tay-Sachs disease from Sandhoff disease at a molecular level?

<p>Deficiency of both β-hexosaminidase A and B in Sandhoff disease</p> Signup and view all the answers

"Erlenmeyer flask deformity" on X-ray and bone crises are characteristic features of which lysosomal storage disorder?

<p>&quot;Gaucher Disease Type 1&quot;</p> Signup and view all the answers

"GM2 Gangliosidosis" includes which diseases?

<p>&quot;Tay-Sachs disease and Sandhoff disease&quot;</p> Signup and view all the answers

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