How can porphyria be detected?

Measurement of porphobilinogen, a porphyrin precursor, in urine is the most important test for diagnosing an acute neurological porphyria (AIP, VP or HCP). Measurement of porphyrins in urine and red blood cells is used to detect and diagnose porphyrias that affect the skin (PCT is by far the most common).

What do people with porphyria look like?

Cutaneous porphyrias Sensitivity to the sun and sometimes artificial light, causing burning pain. Sudden painful skin redness (erythema) and swelling (edema. Blisters on exposed skin, usually the hands, arms and face. Fragile thin skin with changes in skin color (pigment)

What color is urine in porphyria?

The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from porphyria patients may be dark or reddish in color due to the presence of excess porphyrins and related substances, and may darken further after exposure to light.

Is heme a porphyrin?

Heme is a porphyrin ring complexed with ferrous iron and protoporphyrin IX. Heme is an essential prosthetic group in proteins that is necessary as a subcellular compartment to perform diverse biological functions like hemoglobin and myoglobin.

Is porphobilinogen photosensitive?

The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by …

What is congenital erythropoietic porphyria?

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

What color is protoporphyrin IX?

red color
It is the precursor of heme in its biosynthetic pathway. Protoporphyrin IX imparts red color to heme and is the major porphyrin in blood. It is synthesized from protoporphyrinogen IX in the presence of protoporphyrinogen IX oxidase.

Why is porphyrin red?

The circular shape of a red blood cell (magnified 15,000 times) is reminiscent of the protoporphyrin ring, the pigment molecule that is responsible for its distinctive red color. In addition to their important function in hemoglobin, porphyrins also play key roles in organisms across the biological spectrum.