Porphyria
The
porphyrias are a group
of rare inherited or acquired disorders of certain
enzymes
that normally participate in the production of
porphyrins
and
heme.
They manifest with either neurological complications or skin problems or
occasionally both.
Porphyrias are classified in two ways, by symptoms and by
pathophysiology. Symptomatically,
acute porphyrias
primarily present with nervous system involvement, often with severe
abdominal pain,
vomiting,
neuropathy
and mental disturbances.
Cutaneous porphyrias present with skin manifestations often after
exposure to sun due to the accumulation of excess porphyrins near the
surface of the skin. Physiologically, porphyrias are classified as
hepatic or erythropoietic based on the sites of accumulation of
heme
precursors, either in the
liver
or
bone marrow
and
red blood cells.
Our group
developed biochemical assays to help the diagnosis of porphyria. Among
available assays for diagnosis there are:
The
activity of aminolevulinate dehydratase in blood
The
urinary level of aminolevulinic acid
The
urinary level of porphobilinogen
The total
porphyrins in urine and the pattern of porphyrins in urine
The total porphyrins in feces, and the pattern of porphyrins in feces
The total
porphyrins in the erythrocytes and the patter of porphyrins in the
erythrocytes
The total
zinc protoporphyrin
In collaboration with the lab of genetic of
porphyria we investigate these rare diseases, participated in the
European Porphyria network (EPnet) and are part of the Italian group of
porphyria (GRIP).
