Genetic Disorders and Biochemical Pathology — Flashcards

Flashcard 71: _____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)

Answer: Isovaleric aciduria

Flashcard 72: _____ is due to a defect in the CFTR gene on chromosome 7

Answer: Cystic fibrosis

Flashcard 73: Enzyme Replacement Therapy for _____ requires replacement of alpha-L-iduronidase

Answer: Hurler Syndrome

Flashcard 74: _____ syndrome is Abetalipoproteinemia and acanthocytosis + RP

Answer: Bassen-Kornzweig

Flashcard 75: 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 76: _____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase

Answer: Erythropoetic

Flashcard 77: _____ is due to deficiency of the enzyme porphobilinogen deaminase

Answer: Acute intermittent porphyria

Flashcard 78: Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase

Answer: II

Flashcard 79: β-thalassemia is often due to mutations in _____ and promoter sequences

Answer: splice sites

Flashcard 80: Homocystinuria I due to _____ deficiency is treated with decreased methionine and increased cysteine, B6, B12, and folate in the diet

Answer: cystathionine synthase