Biochemical Markers for Disease Diagnosis — Flashcards

Flashcard 1: _____ is a tumor suppressor gene that encodes for the protein Hamartin

Answer: TSC1

Flashcard 2: _____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion

Answer: Familial hypocalciuric hypercalcemia (FHH)

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: How is the diagnosis of HGPRT deficiency made?_____

Answer: measuring enzyme activity in erythrocyte

Flashcard 6: The ratio of the phenylalanine (Phe) level 2 or 3 hours after a BH4 loading test to the urine _____ level has high sensitivity and specificity for diagnosing Segawa syndrome.

Answer: neopterin

Extra: In Segawa syndrome (GTP cyclohydrolase I deficiency), neopterin production is severely impaired. The ratio of post-load phenylalanine to urinary neopterin is an effective diagnostic marker because phenylalanine levels remain relatively stable (or slightly elevated) while neopterin levels are extremely low.

Flashcard 7: A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).

Answer: cerebrohepatorenal

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