Metabolism — Flashcards

Nonclassic congenital adrenal hyperplasia is caused by a(n) _____ of 21-hydroxylase

Wilson disease is characterized by _____ serum ceruloplasmin and _____ urinary copper

Which etiology of hirsutism is considered the diagnosis of exclusion (i.e. hormone levels all normal)? _____

Classic galactosemia causes _____ damage, which manifests as jaundice and hepatomegaly

Hint: organ

Why do patients with androgen insensitivity syndrome (AIS) have breast development? _____

What acid-base disturbance is associated with cyanide poisoning? _____

In the first step of fibrinolysis, _____ is converted to plasmin, which then binds to fibrin

Musty/mousy body odor and mental retardation and fair complexion = _____

Deficiency of the enzyme _____ causes albinism

Classic galactosemia is characterized by the absence of the _____ enzyme