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Old 07-25-2012
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Urine Sample PAS Positive Urine Granules!

A 24-year-old man who is mentally retarded presents with spasticity in his limbs, emotional lability, and decreased visual-spatial discrimination. Urinalysis shows spherical granular masses in urinary sediment that stain positive with periodic acid–Schiff and Alcian blue. The patient most likely has a deficiency of which enzyme?

a) Arylsulfatase A
b) Glucocerebrosidase
c) Hexosaminidase A
d) Phytanic acid α-oxidase
e) Sphingomyelinase
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Old 07-26-2012
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a) Arylsulfatase A - metachromatic leucodystrophy ----answer
(ARSA) enzyme activity in leukocytes that is less than 10% of normal controls; diagnosis of MLD must be confirmed by one or more of the following tests: molecular genetic testing for mutation,is known to cause arylsulfatase A deficiency, urinary excretion of sulfatides, and/or finding of metachromatic lipid deposits in nervous system tissue.

b) Glucocerebrosidase - gaucher's
c) Hexosaminidase A - taysachs
d) Phytanic acid α-oxidase - refsums disease.
e) Sphingomyelinase[/QUOTE] - niemann pick disease - with hepatosplenomegaly and cherry red spot in macula.
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Old 07-26-2012
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A
methachromatic leukodistrophy
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Old 07-28-2012
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Correct Answer correct answer :)

The answer is a) Arylsulfatase A

Arylsulfatase deficiency produces metachromatic leukodystrophy characterized by an accumulation of ceramide (positive periodic acid–Schiff and Alcian blue stain). Mental retardation and motor abnormalities are symptoms.
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