Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis
pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both�…

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In
each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is�…

Serum ferritin level is one of the most commonly requested investigations in both primary
and secondary care. Whilst low serum ferritin levels invariably indicate reduced iron stores�…

Metabolic processes utilize a variety of differing and contrasting biochemical routes to
enable synthesis of degradation and activation or deactivation of substances; in addition�…

Porphyrins and metalloporphyrins are the key pigments of life on earth as we know it,
because they include chlorophyll (a magnesium‐containing metalloporphyrin) and heme�…

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of
heme biosynthesis enzymes and characterized by excessive accumulation and excretion of�…

The porphyrias are a group of rare diseases, each resulting from a defect in a different
enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two�…

The hereditary porphyrias comprise a group of eight metabolic disorders of the heme
biosynthesis pathway. Each porphyria is caused by abnormal function at a separate�…

Porphyria cutanea tarda (PCT) is the most common human porphyria, due to hepatic
deficiency of uroporphyrinogen decarboxylase (UROD), which is acquired in the presence of�…

Skin fibrosis is a physiopathological process featuring the excessive deposition of
extracellular matrix (ECM), which is the main architecture that provides structural support�…