| Description | Letter / Answer | Word Bank |
|---|
| Peroxisomal disorder where allopurnil inhibits xanthine oxidase leading to buildup of uric acid crystals in joints leading to inflammation and joint destruction. | |
| Peroxisomal disorder: PEX gene mutation. Peroxisomes unable to recognize SKL signal so peroxisomes are empty. Buildup of very long chain fatty acids in body. | |
| This laminopathy occurs from a mutation in lamin A/C proteins. Symptoms: contractures (especially of the elbows, ankles, and neck), muscle weakness and atrophy, arrythmias, etc. | |
| Auto recessive, Mutation in lysosomal trafficking regulatory pathway / defect in microtubule polymerization. Autophagocytosis of melanosome leading to albinism. | |
| This toxin cleaves synaptobrevin (a vsnare) inhibiting ACh release at neuromuscular junction causing flaccid paralysis. | |
| A laminopathy - Lamin A/C defect where pre-lamin A interacts with adipocyte TF causing accumulation of adipose tissue in face and neck and peripheral lipoatrophy. | |
| X-Linked Mitochondrial Disorder: Cardiolipin synthesis defect. Symptoms: cardiomyopathy, generalized muscle weakness and fatigue. | |
| Nuclear Substructure Disorder: mutation in SMN protein (located in Gems) leading to defective SnRNPs resulting in loss of motor neurons in the CNS. | |
| Disease results from a mutation in the LDL receptor where it folds incorrectly. Symptoms: xanthomata, corneal arcus, or atherosclerosis. Homozygotes are affected more severely. | |
| Most common peroxisomal disorder. Defect in transport of VLCFAs into peroxisome. VLCFAs accumulate in body. Myelin breakdown and adrenal atrophy. | |
| Laminopathy - Lamin A defect results in an unstable nuclear envelope causing a bleb or herniation of the NE. Symptoms: alopecia (premature hair loss), stunted growth, etc. | |
| | Description | Letter / Answer | Word Bank |
|---|
| This toxin cleaves synaptobrevin (a vsnare) preventing vesicle fusion and release of GABA and glycine (neurotransmitters) resulting in violent spastic paralysis. | |
| This autosomal recessive inherited disease occurs from a mutation in Chloride ion channel proteins on the plasma membrane. Symptoms: clubbed fingers, respiratory infections, etc. | |
| Autosomal Dominant. This disease occurs from a RBC cytoskeleton protein defect. Possible proteins affected: spectrin, ankyrin, or protein 4.1 | |
| Disease that occurs from muation in N-acetylglycosamine phosphotransferase which adds the M6P tag to proteins. Results in acid hyrolases secreted extracellularly. | |
| Cholesterol accumulates on the outer leaflet of RBC's plasma membrane distorting its shape. Associated with chronic liver disease. | |
| Mutation where LDL receptors are too far spread out on the PM to be effective. | |
| Most common lysosomal storage disease. Accumulation of the lipid glucocerebroside. Leads to progressive hepatosplenomegaly and other accumulation symptoms. | |
| This laminopathy is rare, resulting from a lamin A/C protein defect. Fragile nuclear lamina leads to cell death which leads to hypertrophy of the heart and congestive heart failure | |
| X-Linked lysosomal storage disease. Deficiency of iduronodate sulphatase leads to buildup of GAGs. Milder Mucopolysaccharide disorder, No corneal clouding. | |
| An auto recessive lysosomal storage disease and most severe Mucopolysaccharide (MPS) disorder. Deficiency of alpha-L-iduronidase leading to GAG accumulation. | |
|
Periodic Table
Planets from the Sun
Digits of Pi
