Genetic Disorders and Biochemical Pathology — Flashcards

Flashcard 181: In Canavan disease, there is excessive excretion of _____ in the urine

Answer: acetylaspartic acid

Flashcard 182: A point mutation of the mitochondrial _____ gene leads to NARP syndrome

Answer: ATPase-6

Flashcard 183: In Hartnup's disease, there is deficiency of _____ protein in the intestine/ renal tubules or both

Answer: B0AT1

Flashcard 184: Which sphingolipidosis is associated with the development of vortex keratopathy?_____

Answer: Fabry disease

Flashcard 185: Which protein mutation is associated with Dubin-Johnson syndrome?_____

Answer: MRP2 (ABCC2)

Extra: Dubin-Johnson syndrome is an autosomal recessive disorder caused by a mutation in the ABCC2 gene, which encodes the multidrug resistance-associated protein 2 (MRP2). This defect leads to impaired canalicular transport of conjugated bilirubin, resulting in a grossly black liver.

Flashcard 186: Phenylalanine levels are _____ in a patient of Segawa syndrome

Answer: normal

Flashcard 187: How is the diagnosis of HGPRT deficiency made?_____

Answer: measuring enzyme activity in erythrocyte

Flashcard 188: What is the most common type of Mucopolysaccharidosis?_____

Answer: Sanfilippo syndrome

Flashcard 189: Kyphoscoliosis is seen in EDS type _____ due to deficiency of enzyme lysyl hydroxylase-1

Answer: VI

Flashcard 190: Presenilin 1 & 2 code for components of the enzyme _____, which leads to production of Amyloid-beta (Aβ) and its deposition in Alzheimer's disease.

Answer: γ-secretase (Gamma-secretase)