Biochemical Diagnosis of Genetic Disorders — Flashcards

_____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)

Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)

Raised _____ levels are used in neonatal screening for Type I tyrosinemia

_____ test is used to detect alkaptonuria and phenylketonuria.

Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase

Transient tyrosinemia of the newborn is seen in premature infants due to the immaturity of _____ enzyme

How is the diagnosis of HGPRT deficiency made?_____

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

Which epileptic syndrome has been associated with mutations in genes: ? _____

The following symbol represents _____zygotic twins on a pedigree chart