Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Table 1

Biochemical analyses in the father.

Date	Qualitative PBG test	ALA, mg/24 h	PBG, mg/24 h	UTP, µg/24 h	PPI (λ, 619 nm)	Urinary thin layer chromatography (UTLC, %)
						Coproporphyrin	Pentaporphyrin	Hexaporphyrin	Heptaporphyrin	Uroporphyrin
18.07.07	Negative			4456	5.8	10	5	5	30	50
21.01.08				1392
11.09.08				231
12.03.09				118
21.12.10				186
08.02.12				1385
27.06.12				134
16.01.13				65
28.05.14				107
18.11.15	Negative	1	1.1	160

Parameters determined: UTP, urinary total porphyrins. PPI, plasma porphyrin index. Normal values: ALA ≤ 4; PBG ≤ 2; UTP 20–250; PPI ≤ 1,30. Using Ehrlich reactive for PBG detection.