61-7 U/mL Vitamin D <4 ng/mL 25-80 ng/mL ANA IFA Positive (+) granular pattern Anti-SSA 132(positive) 0-15 Porphobilinogen
(total 2900 ml urine) 48.
Some research results on rice and Arabidopsis thaliana found that the formation of chlorophyll-deficient mutant was the block of chlorophyll biosynthesis regulated by enzymes of D-aminolevulinate dehydratase (ALAD), porphobilinogen
deaminase (PBGD) and magnesium chelatase (Mg-chelatase) (Rissler et al.
Decreased PBGD activity can reduce the conversion of porphobilinogen
(PBG) into hydroxymethylbilane, which in turn attenuates the feedback inhibition and increases the activity of d-aminolevulinic acid synthase (d-ALAS), thus increasing the levels of ALA and PBG and consequently urinary excretion thereof.
3), (4) In our case, diagnosis was made after the recognition of dark urine and higher than normal urine porphobilinogen
, corpoporphyrin and total porphyrin levels.
Motor neuropathy in porphobilinogen
deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.
It is a metabolic error that affects more women than men and is inherited in autosomal dominant manner, causing a partial deficit in the porphobilinogen
Cis- and transacting elements involved in the regulation of the erythroid promoter of the human porphobilinogen
Succinate and glycine condense to form aminolevulinate, and two molecules of this intermediate condense to form porphobilinogen
in urine, total Yes/no porphyrines in urine 10.
4]) normal normal Liver function tests normal normal Urine porphobilinogen
negative negative Creatine phosphokinase normal normal Table 2 Complementary laboratory tests Complementary laboratory tests Patient 1 Patient 2 HIV negative negative Hepatitis B antibody negative negative VDRL negative negative Campylobacter jejuni (serology) negative negative Viral titres (Cytomegalovirus) negative negative Antinuclear factors negative negative Table 3 Neurological recovery Recovery pattern Patient 1 Patient 2 (weeks) (weeks) Pupillary reaction 2 8 Eye movements 4 10 Swallowing 6 14 Response to pain 5 10 Weaned from ventilatory support 12 16
Background: Acute Intermittent Porphyria (AIP) is a rare autosomal dominant metabolic disorder resulting from partial deficiency of porphobilinogen
deaminase, the third enzyme of the haem synthetic pathway.
If the excess is of the early precursor molecules (delta aminolevulenic acid [ALA], or porphobilinogen
[PBG], or both), the manifestations are neurovisceral.