Porphyrias [porfyrie]

topical
252
Terms

Porphyria
Porphyrin Disorder

Persistent link   https://www.medvik.cz/link/D011164
Definition

A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Annotation
general or unspecified: prefer specifics
DUI
D011164 MeSH Browser
CUI
M0017334
History note
2005 (1963)
Public note
2005; see PORPHYRIA 1963-2004

C Diseases
C01 Infections 2 036
C04 Neoplasms 12 949
C11 Eye Diseases 1 508
C18.452 Metabolic Diseases 1 208
C18.452.076 Acid-Base Imbalance 291
C18.452.479 Hyperlactatemia 5
C18.452.625 Metabolic Syndrome 2 017
C18.452.660 Mitochondrial Diseases 163
C18.452.811 Porphyrias 252
C18.452.811.250 Porphyria, Erythropoietic 11
C18.452.811.400 Porphyrias, Hepatic 27
C18.452.915 Wasting Syndrome 13

Porphyria, Chester type Disease MeSH Browser

Yusho Disease Disease MeSH Browser