Porphyrin Disorders

Question 1

the intermediate compounds in the production of heme

Answer 1

Porphyrins

Question 2

three primary porphyrins

Answer 2

uroporphyrin
coproporphyrin
protoporphyrin

Question 3

porphyrin precursors

Answer 3

alpha-aminolevulinic acid [ALA]

porphobilinogen

Question 4

Most soluble porphyrins (readily appear in urine)

Answer 4

ALA
porphobilinogen
uroporphyrin

Question 5

less soluble but is found in urine

Answer 5

Caproporphyrin

Question 6

found in bile

Answer 6

Protoporphyrin

Question 7

Disorders of porphyrin metabolism are collectively termed

Answer 7

porphyrias

Question 8

They can be inherited or acquired from erythrocytic and hepatic malfunctions or exposure
to toxic agents

Answer 8

Porphyrin disorders or porphyrias

Question 9

Common causes of acquired porphyrias include

Answer 9

Lead poisoning
Excessive alcohol intake
Iron deficiency
Chronic liver disease
Renal disease

Question 10

An indication of the possible presence of porphyrinuria is the observation of a _________ color to the urine after exposure to air.

Answer 10

red or port wine

Question 11

more prevalent in the erythropoietic porphyrias, and
staining of the teeth also may occur

Answer 11

port wine urine color

Question 12

Screening for porphyrinuria

Answer 12

Ehrlich reaction and fluorescence under ultraviolet light in the 550-
to 600-nm range and can be used only for the detection of ALA and
porphobilinogen. Acetyl acetone must be added to the specimen
to convert the ALA to porphobilinogen before performing the Ehrlich
test.