18 Questions
Which organ failure is associated with I-cell disease?
Liver
What deficiency characterizes I-cell disease?
N-acetylglucosamine1-phosphate transferase deficiency
What is the main cause of lysosomal storage diseases?
Accumulation of macromolecules in lysosomes due to genetic enzyme deficiency
What group of genetic disorders does I-cell disease belong to?
Lysosomal storage disorders
Which system is particularly vulnerable to damage in lysosomal storage diseases?
Central nervous system
Which symptom is NOT typically associated with I-cell disease?
High blood sugar
What is the primary genetic mechanism underlying Zellweger syndrome?
Autosomal recessive inheritance
Which genes are associated with causing Leber's hereditary optic neuropathy?
MT-ND1, MT-ND4L
Which organelles are affected by the reduction or absence of functional peroxisomes in Zellweger syndrome?
Peroxisomes
What is the main impact of Leber's hereditary optic neuropathy on individuals who have this condition?
Neurologic and vision problems
Which of the following is a characteristic feature of I-cell disease?
Absence of functional lysosomes
What is the distinctive mitochondrial genome composed of?
mtDNA only
Which disease is characterized by the absence of functional peroxisomes?
Zellweger Syndrome
What is the main characteristic of I-cell disease?
Defect in microtubules of the Golgi apparatus
What is the primary cause of Tay-Sachs Disease?
Defective lysosomal enzymes
Which organelle is primarily affected in lysosomal storage disorders?
Lysosomes
What role does the Golgi Apparatus play in cellular function?
Packages proteins into vesicles and modifies them
Which gland is primarily associated with secreting enzymes for digestion?
Pancreas
Study Notes
Lysosomal Storage Diseases
- Caused by the accumulation of macromolecules in lysosomes due to a genetic failure to manufacture an enzyme needed for their breakdown
- Neurons of the central nervous system are particularly susceptible to damage
- Most of these diseases are caused by the inheritance of two defective alleles
I-Cell Disease (Mucolipidosis II)
- A rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities, and mental retardation
- Symptoms typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays
- Caused by a deficiency of N-acetylglucosamine-1-phosphate transferase
- Belongs to a group of diseases known as lysosomal storage disorders
Diseases of Golgi Apparatus
- Achondrogenesis: a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage)
- Characterized by a small body, short limbs, and other skeletal abnormalities
- Caused by a defect in the microtubules of the Golgi apparatus
Diseases Related to Peroxisomes
- Zellweger Syndrome: an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes
- Characterized by the accumulation of long chain fatty acids in the brain, decreased formation of plasmalogens, and defects of bile acid formation
- Also known as cerebrohepatorenal syndrome
Disturbance in Cytoplasm
- Without cytoplasm, all organelles would move around and damage the cell
- Without cytoplasm giving the cell shape and support, the cells would be weak enough to hold itself together
- Metabolic issues can occur
Mitochondrial Diseases
- Leber's Hereditary Optic Neuropathy (LHON): a condition related to changes in mitochondrial DNA
- Caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MTND6 genes
- Produces neurologic and vision problems
Luft's Disease
- Characterized by structural damage caused by a genetic defect preventing proper aggregation of the enzyme molecules in the cristae
This quiz covers heart cardiac conduction defects, liver issues, visual and hearing loss, pancreas dysfunction, systemic symptoms, and other aspects related to lysosomal storage diseases. Test your knowledge on the various manifestations and complications of these disorders.
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