Genetic Disorders and Biochemical Pathology — Flashcards

_____, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase

In OTC deficiency, patients present with _____glycemia due to decrease in glutamate levels

OAT gene for gyrate atrophy is located on chromosome _____.

What is the mode of inheritence of Hereditary Hemorrhagic Telangectasia?_____

Which gene mutation is implicated in Imerslund-Grasbeck syndrome?_____

Sphinomyelinase gene is present on chromosome _____

Occipital horn syndrome (Ehlers Danlos-IX; cutis laxa) occurs due to _____ gene mutation

Which step of thyroid hormone synthesis is impaired in pendred syndrome?_____

Mutation of the genes encoding _____ causes juvenile hemochromatosis

Alagille syndrome is associated with mutations in _____ gene in 90% of patients