Metabolism — Flashcards

Flashcard 531: What carbohydrate metabolism enzyme deficiency may present with failure to track objects or develop a social smile? _____

Answer: Galactokinase deficiency

Flashcard 532: In addition to enzyme deficiencies, homocystinuria may be caused by decreased affinity of cystathionine synthase for _____

Answer: pyridoxal phosphate (B6, active form)

Flashcard 533: The Henderson-Hasselbalch equation for any buffer states that: pH = _____

Answer: pK + log [A-]/[HA]

Flashcard 534: Phosphorylation of glycogen phosphorylase causes enzyme _____

Answer: activation

Flashcard 535: Wilson disease is characterized by _____ urinary copper

Answer: increased

Extra: * normally copper is secreted into bile and excreted in stool, however, in wilson disease, copper is not incorporated into ceruplasmin and thus not excreted into bile normally, thus kidneys compensate * Serum copper is decreased; *Urinary copper is increased due to increased free serum copper, which is able to traverse the GMB because it is not bound to ceruplasmin Atlas:

Flashcard 536: What renal enzyme facilitates the conversion of 25-OH vitamin D3 to 1,25 (OH)2 vitamin D3? _____

Answer: 1α-hydroxylase

Flashcard 537: Homocystinuria due to methionine synthase deficiency is treated with increased _____ in the diet

Answer: methionine

Flashcard 538: GMP is broken down into _____ (purine salvage)

Answer: guanosine

Flashcard 539: What glycogen storage disorder is a cause of secondary gout? _____

Answer: von Gierke disease

Extra: Atlas:

Flashcard 540: Which lysosomal storage disease presents with corneal clouding? _____

Answer: Hurler syndrome