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 are a group of diseases that are clinically and genetically heterogeneous and
originate mostly from inherited dysfunctions of specific enzymes involved in heme …

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

The human hereditary hepatic porphyrias are diseases due to marked deficiencies of
enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or …

Skin changes related to malabsorption, deficiency of the vitamins A, B, C and D are
described. Deficiency of vitamin C (scurvy) and of niacin (pellagra) are described in detail …

Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized
clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It …

The porphyrias are a group of disorders characterized by defects in the heme biosynthesis
pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis …

Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase
(PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that …

Background: Variegate porphyria (VP) is the autosomal dominant disorder associated with
deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence …

High-sensitivity detection of porphyrin in blood is very important for the early diagnosis and
treatment of porphyria. Based on the advantages of longer luminescence lifetime and lower …