Genetic Disorders and Biochemical Pathology — Flashcards

A point mutation of the mitochondrial _____ gene leads to NARP syndrome

In Canavan disease, there is excessive excretion of _____ in the urine

In Hartnup's disease, there is deficiency of _____ protein in the intestine/ renal tubules or both

Which protein mutation is associated with Dubin-Johnson syndrome?_____

Which sphingolipidosis is associated with the development of vortex keratopathy?_____

What is the most common type of Mucopolysaccharidosis?_____

Phenylalanine levels are _____ in a patient of Segawa syndrome

How is the diagnosis of HGPRT deficiency made?_____

What is the inheritence pattern of Brunner's syndrome?_____

Segawa syndrome is due to the defective _____ enzyme required for BH4 synthesis