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

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

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

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

How is the diagnosis of HGPRT deficiency made?_____

Phenylalanine levels are _____ in a patient of Segawa syndrome

What is the most common type of Mucopolysaccharidosis?_____

Presenilin 1 & 2 code for _____, which leads to production of A amyloid and its deposition in Alzheimer's disease

MEN 4 is due to mutations of _____ gene