Pathologies associated with impaired synthesis of heme group

Abstract

The porphyrias are cutaneous or neurological diseases associated with inherited or acquired deficiencies which are characterized by partial deficiency in activity of the enzymes of the biosynthesis pathway of heme group, that leads to decreased levels in this group and to the accumulation of its metabolic precursors. The first step of heme biosynthesis occurs in mitochondria; the intermediate phases occur in the cytosol and final phases occur again in the mitochondria. There are several factors that participate in triggering of the disease such as drugs, alcohol, hormones, diet, stress, exposure to sunlight, among others. The classification of porphyrias is made according to the origin of the precursor in excess being Hepatic or Erythropoietic Porphyrias. These are also classified according to the clinical manifestations in Acute or Chronic, being neuropsychiatric symptoms, abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances such as hallucinations, depression, paranoia and anxiety related to acute aspect. In chronic cases the clinical manifestation takes the form of cutaneous photosensitivity. The treatment is carried out after the detection of the symptoms. Porphyria is considered a rare disease with few studies related to it, this work covers its main characteristics differentiating it according to their classification.