Newborn Screening for Genetic Disorders — Flashcards

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

Deficiency of the enzyme _____ causes phenylketonuria (PKU)

An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome

Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test

The most common variant of G6PD deficiency is _____

Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin

How is the diagnosis of HGPRT deficiency made?_____

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

The following symbol represents _____zygotic twins on a pedigree chart

The enzyme _____ is deficient in metachromatic leukodystrophy