Genetic Disorders and Biochemical Pathology — Flashcards

Flashcard 171: An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome

Answer: tyrosine

Flashcard 172: A rare variant genotype of alpha-1 antitrypsin deficiency with no detectable serum alpha-1 antitrypsin is known as _____

Answer: Pi-null

Flashcard 173: The clinical differentiator between Cori disease and Hers disease is that _____ disease presents with **muscle involvement** (e.g., weakness, hypotonia) and elevated CK.

Answer: Cori (GSD Type III)

Flashcard 174: Germline mutation in polycythemia paraganglioma syndrome is gain of function mutation seen in _____ gene.

Answer: EPAS1

Flashcard 175: The gene for atopy is located on chromosome _____

Answer: 5

Flashcard 176: Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test

Answer: Obermeyer

Flashcard 177: Familial pseudogout is associated with mutations in the _____ gene

Answer: ANKH

Extra: The **ANKH** gene (ankylosis human homolog) encodes a transmembrane protein that transports inorganic pyrophosphate (PPi) from the intracellular to the extracellular space. Mutations in this gene lead to increased extracellular PPi, which combines with calcium to form **calcium pyrophosphate dihydrate (CPPD)** crystals, the hallmark of pseudogout.

Flashcard 178: What enzyme deficiency is seen in Farber's disease?_____

Answer: Ceramidase

Flashcard 179: Trichorrhexis nodosa and longitudinal breaks are seen in _____

Answer: Argininosuccinic aciduria (urea cycle disorder)

Flashcard 180: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic