Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Krabbe disease

-thalassemia is often due to mutations in _____ and promoter sequences

Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)

_____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase

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

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

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

_____ syndrome is Abetalipoprotenemia and acanthocytosis + RP

Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase

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