_____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)
#2
Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)
#3
Raised _____ levels are used in neonatal screening for Type I tyrosinemia
#4
_____ test is used to detect alkaptonuria and phenylketonuria.
#5
Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase
#6
Transient tyrosinemia of the newborn is seen in premature infants due to the immaturity of _____ enzyme
#7
How is the diagnosis of HGPRT deficiency made?_____
#8
Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
#9
Which epileptic syndrome has been associated with mutations in genes:
?
_____
#10
The following symbol represents _____zygotic twins on a pedigree chart
Biochemical Diagnosis of Genetic Disorders Indian Medical PG Flashcards - Medical Study Cards
Master Biochemical Diagnosis of Genetic Disorders with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Biochemical Diagnosis of Genetic Disorders Flashcard Deck - 10 Cards
Flashcard 1: _____ is due to defect in the metabolism of leucine following branched chain metabolism (BCKDH)
Answer: Isovaleric aciduria
Flashcard 2: Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)
Answer: 3
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 inheritence disorder characterised 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
Keywords: Biochemical Diagnosis of Genetic Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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