Lysosomal Storage Diseases — Flashcards

Which mucopolysaccharidosis does not show leukocyte inclusions?_____

_____ disease is a mucopolysaccaridosis characterised by the _____ of hepatosplenomegaly and the preservation of intelligence.

Disproportionate involvement of CNS is unique feature of which mucopolysaccharidosis?_____

Which metabolic storage disorder is characterised by presence of collodion baby?_____

Macroglossia and omphalocele present along with Wilm's tumor points to the diagnosis of _____ syndrome.

The type of screening done in a newborn to rule out metabolic disorders like phenylketonuria is _____ screening.

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

The abnormality of _____ syndrome is arterio-hepatic dysplasia