Amino Acid Metabolism — Flashcards

Flashcard 81: Phenylalanine levels are _____ in a patient of Segawa syndrome, after a phenylalanine loading test (100mg/kg)

Answer: increased

Flashcard 82: Urine FeCl3 test done for PKU detects the presence of _____

Answer: Phenylpyruvate

Flashcard 83: Plasma levels of _____ are elevated in gyrate atrophy of retina and choroid.

Answer: ornithine

Flashcard 84: How does hyperammonemia deplete alpha-ketoglutarate?

Answer: 1. The excess free ammonia binds to glutamate and forms glutamine. 2. To compensate for the reduced glutamate, alpha-ketoglutarate is aminated to glutamate.

Flashcard 85: The amount of _____ excreted in the urine is directly proportional to muscle mass

Answer: creatinine

Flashcard 86: What kind of odour is seen in Hawkinsinuria?_____

Answer: Swimming pool

Flashcard 87: HHH syndrome occurs due to the deficiency of the mitochondrial transporter _____

Answer: Ornithine transporter (also known as Ornithine permease)

Extra: HHH syndrome stands for Hyperammonemia, Hyperornithinemia, and Homocitrullinuria. It is caused by a defect in the mitochondrial ornithine transporter (ORNT1), encoded by the SLC25A15 gene.

Flashcard 88: What is the most common acquired cause for increased plasma tyrosine levels?_____

Answer: Transient tyrosinemia of the newborn

Flashcard 89: N-Formimino glutamate (FIGLU) is an intermediate in the metabolism of _____.

Answer: histidine

Flashcard 90: Phenylketonuria can be treated by large neutral amino acid supplementation, or use of commercially available BH4 also called as _____

Answer: Sapropterin