Biochemical Diagnosis of Genetic Disorders — Flashcards

Flashcard 1: _____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)

Answer: Isovaleric aciduria

Flashcard 2: 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 3: Raised _____ levels are used in neonatal screening for Type I tyrosinemia

Answer: succinylacetone

Flashcard 4: _____ test is used to detect alkaptonuria and phenylketonuria.

Answer: FeCl3 (Biochemical)

Flashcard 5: Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase

Answer: II

Flashcard 6: Transient tyrosinemia of the newborn is seen in premature infants due to the immaturity of _____ enzyme

Answer: 4-HPPD

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

Answer: measuring enzyme activity in erythrocyte

Flashcard 8: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 9: Which epileptic syndrome has been associated with mutations in genes: ? _____

Answer: Juvenile myoclonic epilepsy

Flashcard 10: The following symbol represents _____zygotic twins on a pedigree chart

Answer: di