Case Report

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Table 2

Biochemical analyses in the son.

DateQualitative PBG testALA, mg/24 hPBG, mg/24 hUTP, µg/24 hPPI (λ, 619 nm)HMBS, U/ml GRUTLC (%)

09.10.15Positive23163.07Unusual pattern
04.11.1511.338.713182.1757.78
21.12.1510.931.71131
23.03.164.713.41612
21.07.162.55.0991
01.03.17Positive1.55.2591

Normal value of HMBS: 73,3 ± 13,6.