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Medicine Miscellaneous a0a13d4c

Deficiency of Arylsulphatase is seen in

A
Gaucher's disease
B
Metachromatic Leuko Dystrophy (MLD)
C
Tay-Sachs's diseas
D
Niemann-Pick disease
High-Yield Explanation
(B) Metachromatic leukodystrophy (MLD) # Metachromatic leukodystrophy (MLD) is a lysosomal storage diseases, which are progressive, inherited, and neurodegenerative disorders (MLD included).> 4 types of MLD occur with varying ages of onset and courses (i.e., 1. Late infantile, 2. Early juvenile, 3. Late juvenile, 4. Adu t).> All forms of MLD involve a progressive deterioration of motor & neurocognitive function.> The typing is somewhat arbitrary, as the types overlap, and some cases do not fall neatly within a single type. MLD actuall / describes a continuum of clinical severity. The presence of white matter abnormalities on brain images is characteristic.> Pathophysiology: In patients, the inability to degrade sulfated glycolipids, especially the galactosyl-3-sulfate ceramides, characterizes MLD. A deficiency in the lysosomal enzyme sulfatide sulfatase (arylsulfatase A) is present in MLD.

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