Newborn Screening for Genetic Disorders — Flashcards

Flashcard 1: Type _____ Tyrosinemia is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD).

Answer: III

Extra: Tyrosinemia Type III is the rarest form of tyrosinemia. It is caused by mutations in the HPD gene. Note: **Transient Tyrosinemia of the Newborn** is a separate, common, and usually benign condition caused by the immaturity of the same enzyme (4-HPPD) or Vitamin C deficiency. It is more frequently referred to as "neonatal tyrosinemia" than the genetic Type III disorder.

Flashcard 2: Deficiency of the enzyme _____ causes phenylketonuria (PKU)

Answer: phenylalanine hydroxylase

Flashcard 3: An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome

Answer: tyrosine

Flashcard 4: Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test

Answer: Obermeyer

Flashcard 5: The most common variant of G6PD deficiency is _____

Answer: G6PD A-

Flashcard 6: Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin

Answer: phenylalanine

Flashcard 7: How is the diagnosis of HGPRT deficiency made?_____

Answer: measuring enzyme activity in erythrocyte

Flashcard 8: Which epileptic syndrome has been associated with mutations in genes: ? _____

Answer: Juvenile myoclonic epilepsy

Flashcard 9: The following symbol represents _____zygotic twins on a pedigree chart

Answer: di

Flashcard 10: _____ disease is caused by a deficiency of the enzyme branching enzyme

Answer: Andersen