Search on: PORPHYRIAS 
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Descriptor English:   Porphyrias 
Descriptor Spanish:   Porfirias 
Descriptor Portuguese:   Porfirias 
Synonyms English:   Disorder, Porphyrin
Disorders, Porphyrin
Porphyrin Disorder
Porphyrin Disorders  
Tree Number:   C18.452.811
Definition English:   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. 
Indexing Annotation English:   general or unspecified: prefer specifics
See Related English:   Hydroxymethylbilane Synthase
Porphobilinogen Synthase
History Note English:   2005 (1963) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   11606 
Unique Identifier:   D011164 

Occurrence in VHL: