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Questions and Answers
What is the typical age range for patients with Adolescent form ALD?
What is the typical age range for patients with Adolescent form ALD?
Approximately what percentage of patients with Adolescent form ALD present acutely with status epilepticus or coma?
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?
What is the main difference in clinical manifestations between Childhood form ALD and Adolescent form ALD?
What percentage of male patients with Addison disease may have the biochemical defect of ALD in the Addison-only phenotype?
What percentage of male patients with Addison disease may have the biochemical defect of ALD in the Addison-only phenotype?
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Which ALD phenotype manifests as a progressive paraparesis in late adolescence or adulthood?
Which ALD phenotype manifests as a progressive paraparesis in late adolescence or adulthood?
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What characterizes Familial Hypercholesterolemia (FH)?
What characterizes Familial Hypercholesterolemia (FH)?
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Which of the following is a characteristic feature seen in muscle biopsy of patients with mitochondrial respiratory chain defects?
Which of the following is a characteristic feature seen in muscle biopsy of patients with mitochondrial respiratory chain defects?
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What is the main neuropathologic description of Leigh Disease?
What is the main neuropathologic description of Leigh Disease?
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In fructose 1,6-biphosphate metabolism, what are the products of its hydrolysis?
In fructose 1,6-biphosphate metabolism, what are the products of its hydrolysis?
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Which of the following clinical manifestations is typically seen in patients with fructose metabolism disorders upon ingestion?
Which of the following clinical manifestations is typically seen in patients with fructose metabolism disorders upon ingestion?
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Which of the following conditions may have a higher incidence in patients with fructose metabolism disorders?
Which of the following conditions may have a higher incidence in patients with fructose metabolism disorders?
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Which lysosomal storage disease is characterized by the accumulation of glycosphingolipids leading to neurodegeneration and organomegaly?
Which lysosomal storage disease is characterized by the accumulation of glycosphingolipids leading to neurodegeneration and organomegaly?
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What is the true incidence of Leigh Disease as per the text?
What is the true incidence of Leigh Disease as per the text?
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Which lysosomal storage disease has 3 subtypes including an adult, nonneuronopathic form that is most common among Ashkenazi Jews?
Which lysosomal storage disease has 3 subtypes including an adult, nonneuronopathic form that is most common among Ashkenazi Jews?
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In which form of Gaucher Disease do patients present with increased tone, strabismus, and organomegaly in infancy?
In which form of Gaucher Disease do patients present with increased tone, strabismus, and organomegaly in infancy?
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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?
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?
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Which lysosomal storage disease results from the deficiency of β-galactosidase activity and is characterized by the accumulation of GM1 gangliosides?
Which lysosomal storage disease results from the deficiency of β-galactosidase activity and is characterized by the accumulation of GM1 gangliosides?
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Which enzyme replacement therapy can be used as a treatment for Gaucher Disease?
Which enzyme replacement therapy can be used as a treatment for Gaucher Disease?
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What distinguishes Tay-Sachs disease from Sandhoff disease at a molecular level?
What distinguishes Tay-Sachs disease from Sandhoff disease at a molecular level?
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"Erlenmeyer flask deformity" on X-ray and bone crises are characteristic features of which lysosomal storage disorder?
"Erlenmeyer flask deformity" on X-ray and bone crises are characteristic features of which lysosomal storage disorder?
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"GM2 Gangliosidosis" includes which diseases?
"GM2 Gangliosidosis" includes which diseases?
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