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A 2 year old girl has hepatosplenomegally, mental retardation, short stature, a gargoyle like facie, and corneal clouding. A tissue sample is taken from the child and analyzed with electron microscopy. The pathologist notes that the child’s lysosomes contain laminated structures. What is the likely composition of these lysosomal structures?
A - Heparan Sulfate
B - GM2 ganglioside
C - Sphingomyelin
D - Glucocerebroside
E - Galactocerebroside
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this is Hurlers syndrome where L-irodinase is deficeint leading to accumulation of heparan suplhate .;AR
there is one more syndrome called HunTers syndrome where def of iduronate sulphate leading to acculmulation of again heparan suphate but this syndrome doesnt have corneal clouding and this one is combination of mild hurlers plus aggresive behaviour and Hunters is XR
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AAA is correct
This child has Hurler’s syndrome. Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism, corneal clouding, and gargoyle-like faces. There is a progressive mental retardation, with death frequently occurring by the age of 10 years.
And just to make a connection with docmp question 1, Type I cell disease or mucolipidosis II, will have a increase in acid hydrolase and Hurlerthe Acid hydrolase is normal.
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thank you please more questions,,,,A,,
