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Porphyrins are cyclic compounds, also involved in the formation of hemoglobin and other hemoproteins (blood proteins) and are involved in the process of oxygen transport.
Porphyrias belong to a group of diseases, the cause of which is a deficiency of enzymes at the stage of heme formation. (Heme is an iron-containing pigment, the precursor of hemoglobin). Deficiency of the enzyme leads to the accumulation of porphyrins and its precursor compounds in the blood, which is followed by the manifestation of the corresponding symptom complex.
Accumulation of porphobilinogen and aminolevulenic acid (porphyrin precursors) causes acute abdominal pain and neuropsychiatric symptoms.
Accumulation of porphyrin (without accumulation of precursors) leads to increased sensitivity to light.
Enzyme deficiency can be genetic (inherited) or acquired, which can be provoked by: alcohol intoxication, lead poisoning and others. Porphyrins accumulate in plasma, erythrocytes, urine and feces.
Conditions in which there is an increase in the number of porphyrins:
Chronic lead poisoning often results in moderate coproporphyrinuria (350-1500ng/24h in urine), while in acute poisoning, total porphyrins reach 10000ng/24h in urine, 80% of which is coproporphyrin.
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