Laboratory data On day 1 of On day 19 after Normal range admission chelation therapy Hemoglobin 9.4g/dL 11.5 g/dL 13.5-17.5 Hematocrit 27.9% 42% 41-53% AST 57 U/L 32 U/L 0-37 U/L ALT 87U/L 40 U/L 0-40 U/L Blood lead level 62.8 g/dL 31 g/dL <40 [micro]g/dL Urine delta-ALA 81.8 mg/L nil <7mg/L/24hr Urine PBG 1.0 mg/L nil <4mg/L/24hr ALT = alanine aminotransferase; AST = aspartate aminotransferase; PBG = porphobilinogen
; ALA = aminolevulinic acid.
D-aminolevulinate dehydratase (ALAD), porphobilinogen
deaminase (PBGD) and magnesium chelatase (Mg-chelatase) were the key enzymes reported in the chlorophyll biosynthesis in higher plants.
Acute intermittent porphyria in Sweden: Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen
A qualitative urinalysis of porphobilinogen
was performed, which was positive, confirming the diagnosis of acute intermittent porphyria.
For confirmatory diagnosis, porphobilinogen
deaminase (PBGD) test was done which was found to be positive.
In the context of an abnormal excretion of porphobilinogen
in the urine of three patients, one has to consider the occurrence of true porphyrias.
Two molecules of ALA are converted into porphobilinogen
, reaction mediated by porphobilinogen
synthase, and 5 other enzymes, 3 cytosolic and 2 mitochondrial, which lead to the formation of PpIX, which is a very efficient photosensitizer.
These tests revealed increased levels of coproporhyrin and porphyrin precursors such as porphobilinogen
(PBG) and aminolevulinic acid.
As per porphyria profile Porphobilinogen
and delta amino levaleunate was absent in urine.
3-5) Test for urinary porphobilinogen
was done by the method of Schwartz et al4 and was negative.