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FMR 58 - Amino Acid, Heme, and Bilirubin Disorders Questions With Complete Solutions
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FMR 58 - Amino Acid, Heme, and Bilirubin Disorders Questions With Complete Solutions
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FMR 58 - Amino Acid, Heme, and Bilirubin DisordersQuestions With Complete Solutions
_______ is a chronic porphyria of the skin, associated with
blistering cutaneous ___________________. Correct Answer
Porphyria cutanea tarda (PCT), photosensitivity
__________ inhibits two enzymes in the porphyrin pathway:
ALA dehydratase, the second step, and ferrochelatase,
catalyzing the addition of Fe2+ to protoporphyin IX.
Neurotoxin that accumulates in soft tissues and bones by
binding to sulfhydryl groups, normally bound by Ca2+, Fe2+,
Zn2+.
Symptoms of lead poisoning include irritability, loss of appetite,
weight loss, lethargy, abdominal pain, vomiting, constipation,
and learning difficulties. Correct Answer Lead (Pb2+)
______________ ___________ __________________ is caused
by defect in HMBS gene encoding Porphobilinogen deaminase.
Diffuse abdominal pain that is constant. Some people have
psychological manifestations including insomnia, anxiety,
depression, hallucinations and other states of altered
consciousness.
Certain prescribed and illicit drugs detoxified by hepatic
cytochrome P450 enzymes, or drugs that induce
_________________ expression, may also induce an attack.
, Correct Answer Acute intermittent porphyria (AIP), ALA
synthase-1 (ALAS)
_________________ digest RBCs by proteolytic degradation of
globin. Correct Answer Macrophages
_________________ levels is an analyte assayed in screening
and monitoring for intravascular hemolytic anemia.
May increase during inflammation and infection
May be depleted when excess hemoglobin is released during
RBC lysis. Correct Answer Haptoglobin
___________________ porphyria, such as an acute hepatic
porphyria (e.g. acute intermittent porphyria, AIP) may present
with symptoms that include abdominal pain and neuromuscular
and psychiatric disturbances. Correct Answer Neurological
___________________ syndrome is caused by reduced
transport of conjugated bilirubin into the bile by defect in the
gene encoding _______. Correct Answer Dubin-Johnson,
MRP2
A patient may be initially asymptomatic but develop skin lesions
when they take drugs that induce _____________ synthesis or
drink excessive alcohol. Porphyrin intermediates accumulate
and react with oxygen to produce _________) that cause skin
damage. Correct Answer Porphyrin, ROS
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