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Porphyrias [E80.2]

OMIM numbers: 176100, 613521 (UROD), 176000, 609806 (HMBS)

Dipl.-Biol. Birgit Busse

Scientific Background

Porphyrias are caused by enzymatic defects of the hem biosynthesis and result in accumulation and deposition of intermediate products in the tissue. Depending on the type of porphyria and exposure to noxious substances, abdominal, neurological and/or cutaneous signs and symptoms are seen.

Acute porphyrias:

Major sign is an abdominal colic caused by alcohol, fasting or medication. The frequency of acute intermittent porphyria is 1 in 10,000 in Western Europe.

Non-acute porphyrias:

The major signs and symptoms affect the skin and are caused by cutaneous deposition of hem pre-cursers leading to increased light sensitivity. Exposition to sun causes skin damage, ranging from mild blistering to severe burnings and mutilation.

Since a clear identification by the signs and symptoms is frequently not possible, a metabolite profile from a urine sample may allow conclusions on the type of porphyria in regard to a differential diagnosis. Genetic diagnostics can confirm the diagnosis and provides information on mutation carrier status.