Search on: PROTOPORPHYRIA, ERYTHROPOIETIC 
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Descriptor English:   Protoporphyria, Erythropoietic 
Descriptor Spanish:   Protoporfiria Eritropoyética 
Descriptor Portuguese:   Protoporfiria Eritropoética 
Synonyms English:   Erythrohepatic Protoporphyria
Ferrochelatase Deficiency
Heme Synthetase Deficiency
Deficiencies, Ferrochelatase
Deficiencies, Heme Synthetase
Deficiency, Ferrochelatase
Deficiency, Heme Synthetase
Erythropoietic Protoporphyrias
Ferrochelatase Deficiencies
Heme Synthetase Deficiencies
Protoporphyrias, Erythropoietic
Synthetase Deficiencies, Heme
Synthetase Deficiency, Heme
Erythropoietic Protoporphyria  
Tree Number:   C06.552.830.812
C16.320.850.742.812
C17.800.827.742.812
C18.452.811.400.812
Definition English:   An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. 
Indexing Annotation English:   do not confuse with PORPHYRIA, ERYTHROPOIETIC
See Related English:   Ferrochelatase
 
History Note English:   2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications 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:   38626 
Unique Identifier:   D046351 

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