Podcast
Questions and Answers
Where do glucocerebrosides accumulate in massive amounts?
Where do glucocerebrosides accumulate in massive amounts?
- Spleen, liver, bone marrow, lymph nodes, tonsils, thymus, Peyer’s patches and lung alveolar septa and alveoli (correct)
- Lung alveolar septa and alveoli
- Tonsils, thymus, Peyer’s patches
- Spleen, liver, bone marrow, lymph nodes
Which organ may become enlarged (up to 10 kg) due to the accumulation of glucocerebrosides?
Which organ may become enlarged (up to 10 kg) due to the accumulation of glucocerebrosides?
- Spleen (correct)
- Lungs
- Bone marrow
- Liver
Where are Gaucher cells seen in the case of cerebral involvement?
Where are Gaucher cells seen in the case of cerebral involvement?
- In the Virchow-Robin spaces (correct)
- In the meninges
- In the gray matter of the brain
- In the ventricles of the brain
What is the percentage range of bone marrow involvement in type I cases?
What is the percentage range of bone marrow involvement in type I cases?
Which type of genetic disorder is characterized by the expression of the trait in the heterozygous state and affects males and females equally?
Which type of genetic disorder is characterized by the expression of the trait in the heterozygous state and affects males and females equally?
In which type of genetic disorder are both copies of a gene mutated, leading to the occurrence of the disorder?
In which type of genetic disorder are both copies of a gene mutated, leading to the occurrence of the disorder?
Which type of genetic disorder is transmitted by heterozygous females to their sons, who manifest the disease?
Which type of genetic disorder is transmitted by heterozygous females to their sons, who manifest the disease?
Which type of genetic disorder is caused by mutations in single genes of large effect?
Which type of genetic disorder is caused by mutations in single genes of large effect?
Which type of genetic disorder is affected by multiple genes, each with a small effect, and the phenotype is affected by the environment?
Which type of genetic disorder is affected by multiple genes, each with a small effect, and the phenotype is affected by the environment?
Which type of genetic disorder involves major structural alterations and genomic changes?
Which type of genetic disorder involves major structural alterations and genomic changes?
What is the mechanism behind the protection of female carriers of X-linked disorders?
What is the mechanism behind the protection of female carriers of X-linked disorders?
What is the main consequence of enzyme defects in single gene disorders?
What is the main consequence of enzyme defects in single gene disorders?
What is the approximate frequency of lysosomal storage diseases in live births?
What is the approximate frequency of lysosomal storage diseases in live births?
How are lysosomal storage disorders categorized?
How are lysosomal storage disorders categorized?
Which enzyme deficiency leads to Gaucher disease?
Which enzyme deficiency leads to Gaucher disease?
Where do glucocerebrosides accumulate in Gaucher disease?
Where do glucocerebrosides accumulate in Gaucher disease?
What is the most common known genetic risk factor for developing Parkinson's disease?
What is the most common known genetic risk factor for developing Parkinson's disease?
Which factor contributes to determining the distribution of stored material and affected organs in lysosomal storage diseases?
Which factor contributes to determining the distribution of stored material and affected organs in lysosomal storage diseases?
