Mitochondrial Respiratory Chain Defects and Leigh Disease Quiz

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21 Questions

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?


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?


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


What characterizes Familial Hypercholesterolemia (FH)?

Elevated LDL cholesterol, premature cardiovascular disease, and tendon xanthomas

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

Ragged red fibers

What is the main neuropathologic description of Leigh Disease?


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

Triose phosphate and glyceraldehyde phosphate

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


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

Celiac disease

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

Gaucher Disease

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

1 in every 26,000 live births

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

Gaucher Disease

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

Type 2

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?

Niemann-Pick Disease Type A

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

GM1 Gangliosidosis

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

Enzyme replacement therapy with mannoseterminated recombinant human acid β-glucosidase

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

Deficiency of both β-hexosaminidase A and B in Sandhoff disease

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

"Gaucher Disease Type 1"

"GM2 Gangliosidosis" includes which diseases?

"Tay-Sachs disease and Sandhoff disease"

Test your knowledge on mitochondrial respiratory chain defects (oxidative phosphorylation disease) and Leigh Disease (Subacute Necrotizing Encephalomyelopathy). Learn about the characteristic features of these disorders such as 'ragged red fibers' in muscle biopsy and neuropathologic descriptions.

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