Genetic Disorders and Biochemical Pathology — Flashcards

_____ syndrome is a rare multisystem disorder of copper metabolism with features of both Wilsons and Menkes disease.

The compound that accumulates in the tissues in ochronosis is _____.

PIGA gene mutation affects all cells that express _____-linked proteins

Maple syrup urine disease (MSUD) type I is due to impaired alpha-Ketoacid de-_____ component of BCKAD

Mutations in _____ are linked with epileptic encephalopathies and early-onset absence seizures

The gene for Alpha-1 antitrypsin (A1AT) is located on the long arm of chromosome _____.

Fish odor syndrome is due to deficiency of enzyme _____

_____ test is used to detect alkaptonuria and phenylketonuria.

A cerebrohepatorenal syndrome is a rare inherited absence of _____

Hawkinsinuria occurs due to missense mutations in gene encoding which enzyme?_____