[mtoi]

INPATIENT/ ER/ CLINIC/ OTHER - ER
MODE OF TRANSPORTATION - walked into ER
PATIENT PROFILE - 25 yo male, agitated, severe abdominal pain, became combative required five-point restraint, bp elevated, pulse tachycardia, reddish urine in foley bag, urine rbc negative, urine tox screen negative, urine porphobilinogen positive
RELEVANT HX -
FAMILY HX -
QUESTION - which of following enzyme deficiencies is responsible?

A porphobilinogen deaminase
B ferrochelatase
C heme oxygenase
D uroporphyrinogen decarboxylase
E uroporphyrinogen III cosynthase

 

[dr.valium]

A.

Porphoblinogen deaminase deficiency --> Acute Intermittent Porphyria

 

[step1an]

Yes acute intermittent porphyria...

A porphobilinogen deaminase

 

[mtoi]

Ans - porphobilinogen deaminase
Acute intermittent porphyria and porphyria cutanea tarda are two mc porphyrias seen clinically
Acute intermittent porphyria - defective porphobilinogen deaminase also called uroporphyrinogen synthase
Sx during acute attack à marked neurovisceral sx abdominal pain, muscle weakness, psych manifestations such as anxiety, paranoia, and depression
Urine pbg levels - high
Urine color - red port-wine

Porphyria cutanea tarda - defective uroporphyrinogen decarboxylase
Photosensitivity and chronic blistering lesions of sun-exposed skin in absence of neuropsychiatric sx