porphyria definition

porphyria definition

Porphyria (Porphyrias) is often a number of diseases caused by deficiency of enzymes involved in the synthesis of heme.

Heme can be a chemical compound that carries oxygen and gives red colorization to the blood.

Heme is usually a major component of the hemoprotein (a kind perotein specific to all tissues).

Lots of heme synthesized in the marrow to make hemoglobin.

The liver also produces huge amounts of heme and mostly used being a element of the cytochrome.

Some cytochromes inside liver oxidizes foreign chemicals, including drugs, making it more readily stripped away from our bodies.

3 types of porphyria are most frequently found are:

# Porphyria cutanea tarda

# Acute Intermittent Porphyria

# Protoporfiria eritropoetik.

These three diseases are extremely different; different symptoms, different diagnostic examinations and pengobatannyapun different.

A few of the more rare poprfiria have a similar picture of one another:

- Deficiency of delta-aminolevulinic acid dehydratase - Congenital Porphyria eritropoetik

- Porphyria hepatoeritropoetik

- Hereditary Koproporfiria

- Porphyria variegat.

Porphyria can be grouped in lots of ways.

The most trusted may be the grouping based enzyme deficiency.

Other classification systems distinguish acute porphyria (which causes neurological symptoms) with cutaneous porphyria (which causes skin photosensitivity).

Your third classification system divides porphyria be:

- Hepatic Porphyria: excess precursor is especially created from the liver

- Profiria eritropoetik: excess precursor is primarily based on marrow.

porphyria  CAUSE

8 kinds of different enzymes working at successive stages in the manufacture of heme.

If your shortage of just one on the enzymes that really work with a group of heme manufacture of the chemical precursors of heme to accumulate in tissues (specifically in the marrow or liver).

These precursors (including acid-aminolevulenat delta, porfobilinogen and porphyrins) can look inside blood and excreted through urine or feces.

All porphyria, porphyria cutanea tarda except, is hereditary (a genetic abnormality).

All patients stood a hereditary enzyme deficiency porphyria same. Nonetheless they have different mutations within the gene for that enzyme, unless it comes through the same family.

porphyria symptoms

Excessive porphyrin cause photosensitivity, what type can be really sensitive to sunlight.

This occurs because when encountered with light and oxygen, will produce oxygen porphyrin charged and unstable, which may damage your skin layer.

Nerve damage that triggers pain and also paralysis.

Nerve damage occurs if found buildup of acids and delta-aminolevulenat porfobilinogen.

porphyria  Diagnosis

If suspected a critical porphyria, the measurement of delta-aminolevulenat acid levels inside the urine and porfobilinogen

If suspected of any cutaneous porphyria, examined stages of porphyrins in the plasm.

Other tests (including measurement of RBC enzymes) do if your result of one of several screening tests are abnormal.

porphyria  TREATMENT

Treatment is determined by the porphyria is going on.