18 Questions
Where do glucocerebrosides accumulate in massive amounts?
Spleen, liver, bone marrow, lymph nodes, tonsils, thymus, Peyer’s patches and lung alveolar septa and alveoli
Which organ may become enlarged (up to 10 kg) due to the accumulation of glucocerebrosides?
Spleen
Where are Gaucher cells seen in the case of cerebral involvement?
In the Virchow-Robin spaces
What is the percentage range of bone marrow involvement in type I cases?
70% - 100%
Which type of genetic disorder is characterized by the expression of the trait in the heterozygous state and affects males and females equally?
Autosomal dominant disorder
In which type of genetic disorder are both copies of a gene mutated, leading to the occurrence of the disorder?
Autosomal recessive disorder
Which type of genetic disorder is transmitted by heterozygous females to their sons, who manifest the disease?
X-linked disorder
Which type of genetic disorder is caused by mutations in single genes of large effect?
Mendelian disorder
Which type of genetic disorder is affected by multiple genes, each with a small effect, and the phenotype is affected by the environment?
Complex multigenic disorder
Which type of genetic disorder involves major structural alterations and genomic changes?
Chromosomal disorder
What is the mechanism behind the protection of female carriers of X-linked disorders?
Random inactivation of both X chromosomes
What is the main consequence of enzyme defects in single gene disorders?
Decreased amount of the product
What is the approximate frequency of lysosomal storage diseases in live births?
1 in 5000
How are lysosomal storage disorders categorized?
Based on biochemical nature of the substrates
Which enzyme deficiency leads to Gaucher disease?
Glucocerebrosidase
Where do glucocerebrosides accumulate in Gaucher disease?
Macrophages of bone marrow, liver, and spleen
What is the most common known genetic risk factor for developing Parkinson's disease?
Mutation of the glucocerebrosidase gene
Which factor contributes to determining the distribution of stored material and affected organs in lysosomal storage diseases?
Location where most degradation normally occurs
This quiz covers the expected clinical findings of Gaucher disease, including the accumulation of glucocerebrosides in various organs, enlarged spleen, lymphadenopathy, bone marrow involvement, and cerebral involvement. It also includes the identification of Gaucher cells in the Virchow-Robin spaces.
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