Categories: BiochemistryFlash Card

General Features Of Inborn Errors Of Metabolism – Inborn Errors Of Metabolism – Biochemistry

Molecular change in lysosomal storage diseases?
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Mutation of genes encoding lysosomal hydrolases

Enzyme therapy is recently approved for?
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Monteaux Lamy disease, Pompe’s diseae

Macrocephaly?
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Canavan disease

Globoid bodies are seen in?
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Krabbe’s disease

Splenomegaly is NOT seen in?
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Krabbe disease

Uronic acid level in urine is elevated in?
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Mucopolysaccharoidoses

Corneal clouding is NOT seen in?
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Products accumulated in Hunter syndrome?
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Dermatan sulphate, Heparan sulphate

Only male are affected in?
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Hunter syndrome

X-linked mucopolysacchroidoses?
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Hunter syndrome, Fabry disease
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4 years ago

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