The disease presents with photosensitivity and skin fragility leading to erythema and vesicle formation, in addition to markedly elevated urine uroporphyrin
. Other dermatologic conditions include lichen planus, necrolytic acral erythema, and as mentioned previously, leukocytoclastic vasculitis.
Twenty-four-hour urinary levels of uroporphyrin
and coproporphyrin were raised.
The results of blood tests were as follows: aspartate aminotransferase, 91 U/L; alanine aminotransferase, 66 U/L; gamma-glutamyl transferase, 447 U/L; zinc-protoporphyrin levels, 3.3 [micro]g/gHb; uroporphyrin
levels were elevated.
In porphyrin testing, uroporphyrin
is an indicator for aluminum, coproporphyrin for lead, and precoproporphyrin for mercury.
The patient had elevated levels of total plasma porphyrin, uroporphyrin
, and heptacarboxylporphyrin and hexacarboxylporphyrin; she had normal levels of pentacarboxylporphyrin, coproporphyrin I, and coproporphyrin II.
Parameters Matrices Value Coproporphyrin I Urine/24 h 7.65 microg/24h Coproporphyrin III Urine/24 h 59.3 microg/24h Uroporphyrin
Urine/24 h 12.7 microg/24h S-Aminolevulinic Acid Urine/24 h 2.1 mg/24h Porphobilinogen Urine/24 h 1.22 mg/24h N-Acetyl-beta-D-glucosaminidase Urine/24 h 5.14 IU/L [delta]-Aminolevulinic acid dehydratase Blood 75 U/mL Zinc protoporphyrin 67 microg/dL * Reference Parameters normal levels Coproporphyrin I <25 Coproporphyrin III <75 Uroporphyrin
<25 S-Aminolevulinic Acid 0.25-6.4 Porphobilinogen 0.1-1.7 N-Acetyl-beta-D-glucosaminidase 0.3-12 [delta]-Aminolevulinic acid dehydratase >20 Zinc protoporphyrin <40 * Out of normal levels.
His urinary porphyrin excretion profile showed greatly elevated porphyrin concentrations (10- to 13-fold) with a preponderance of uroporphyrin
, typical of acute porphyria.
This is related to the overproduction of in-vivo of uroporphyrin
, protoporphyrin, coproporphyrin and their precursors.
Quantitive studies revealed that urinary porphyrins were elevated 70 times than normal (uroporphyrin
levels being more than coproporphyrins).
Tests for detection of porphyrins in the blood, urine and stool were undertaken by the method of Haining et al.2 Presence of uroporphyrin
(+++) and coproporphyrin (+) in the urine was detected by the development of bright red fluorescence under ultraviolet (UV) trans-illuminator, which occurs when concentration of porphyrins is greater than 10 times normal.3 Similarly treated normal urine samples served as controls which showed no fluorescence under UV light.
Porphobilinogen was found to be strongly positive in the analysis of a spot urine sample, and her uroporphyrin
, corpoporphyrin and total porphyrin levels were found to be elevated in a 24-hour urine collection.
(6) Abnormal porphyrin metabolism, a characteristic of diseases usually inherited as an enzyme deficiency and resulting in abnormal synthesis of photodynamic agents, including uroporphyrin
and coproporphyrin, can result in photosensitization.