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27 Cards in this Set
- Front
- Back
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What is a mucopolysaccharide? |
Disaccharides that contain a hexose and an aminohexose making a glycosaminoglycan (GAGs). |
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What are mucopolysaccharidoses? |
They are inherited lysosomal storage disease that occur when the body cannot break down GAGs. |
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What symptoms are common with mucopolysaccharidoses (MPS)? (3) |
- Abnormal face - Bone, cartilage, and connective tissue deformities - intellectual disabilities |
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What GAG is found in the urine of a patient with Hurler syndrome? (2) |
Heparan sulfate and Dermatan sulfate |
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In terms of skeletal, corneal, and mental abnormalitiy, what makes Hurler syndrome stand out? |
It is the only MPS in which all three criteria have problems AND urine contains heparan and dermatan. |
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What GAG is found in the urine of a Scheie syndrome patient? |
Heparan sulfate and Dermatan sulfate |
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What makes Scheie syndrome stand out among other MPS? |
It is the only one that does not have mental abnormalities AND heparan and dermatan in the urine. |
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What GAGs are found in the urine of Hunter syndrome patients? |
Dermatan sulfate |
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What makes Hunter Syndrome stand out among other MPS? |
Though difficult to discern from Scheie, Hunter syndrome definitely has no skeletal abnormalities. |
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What GAG is found in a urinalysis of Sanfilippo syndrome? |
Just Heparan sulfate |
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What makes Sanfilippo syndrome stand out among other MPS? |
It has severe mental abnormalities and no corneal opacity (may or may not have skeletal abnormalities). |
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What GAG is found in a urinalysis of Morquio syndrome? |
Just Keratan sulfate |
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What makes Morquio syndrome stand out among other MPS? |
It can have severe skeletal abnormalities; also, no mental abnormalities. |
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What inheritance does Hunter syndrome have? |
X-linked so boys only |
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How many subtypes of Sanfilippo syndrome are there? |
4 |
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What MPS is the most common? |
Sanfilippo syndrome |
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How many subtypes of Morquio syndrome are there? |
2
(Type A and Type B) |
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What are the symptoms of Ehler-Danlos syndrome? (5) |
- loose joints (double-jointed) - fragile, small blood vessels - abnormal scar formation and wound healing - soft, velvety, stretchy skin that bruises easily - pes planus |
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How many subtypes of Ehler-Danlos syndrome are there? |
10 |
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What protein is defective in Ehler-Danlos syndrome? |
Collagen Type I-VI |
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What risk do patients with vascular Ehler-Danlos syndrome have? |
weakened aorta, renal, and splenic arteries that can rupture |
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What protein is defective in Marfan syndrome? |
Fibrillin |
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What are symptoms of Marfan syndrome? (8) |
- Very tall, thin, and loose jointed - crowded teeth - high arched palate - Arachnodactyly - Aortic regurgitation - long narrow face - curved vertebrae - flat feet |
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What protein is defective in osteogenesis imperfecta? |
Collagen Type I |
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How many subtypes of Osteogenesis Imperfecta are there? |
8 |
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What is notable on a lower limb radiograph of a patient with osteogenesis imperfecta? (2) |
Bowed long bones, transverse sclerotic "growth arrest" lines that correlate with cycle of treatment |
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What is notable about a skull radiograph of an osteogenesis imperfecta patient? |
Wormian suture lines signifying hundreds of fractures in the calvarium |
