Search on: HYDROXYMETHYLBILANE SYNTHASE DEFICIENCY 
Descriptors Found: 1
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Descriptor English:   Porphyria, Acute Intermittent 
Descriptor Spanish:   Porfiria Intermitente Aguda 
Descriptor Portuguese:   Porfiria Aguda Intermitente 
Synonyms English:   Acute Intermittent Porphyria
Acute Intermittent Porphyrias
Acute Porphyria
Acute Porphyrias
Deaminase Deficiencies, Porphobilinogen
Deaminase Deficiency, Porphobilinogen
Deficiencies, Hydroxymethylbilane Synthase
Deficiencies, PBGD
Deficiencies, Porphobilinogen Deaminase
Deficiencies, UPS
Deficiencies, Uroporphyrinogen Synthase
Deficiency, Hydroxymethylbilane Synthase
Deficiency, PBGD
Deficiency, Porphobilinogen Deaminase
Deficiency, UPS
Deficiency, Uroporphyrinogen Synthase
Hydroxymethylbilane Synthase Deficiencies
Hydroxymethylbilane Synthase Deficiency
Intermittent Porphyria, Acute
Intermittent Porphyrias, Acute
PBGD Deficiencies
PBGD Deficiency
Porphobilinogen Deaminase Deficiencies
Porphobilinogen Deaminase Deficiency
Porphyria, Acute
Porphyria, Swedish Type
Porphyrias, Acute
Porphyrias, Acute Intermittent
Porphyrias, Swedish Type
Swedish Type Porphyria
Swedish Type Porphyrias
Synthase Deficiencies, Hydroxymethylbilane
Synthase Deficiencies, Uroporphyrinogen
Synthase Deficiency, Hydroxymethylbilane
Synthase Deficiency, Uroporphyrinogen
Type Porphyria, Swedish
Type Porphyrias, Swedish
UPS Deficiencies
UPS Deficiency
Uroporphyrinogen Synthase Deficiencies
Uroporphyrinogen Synthase Deficiency  
Tree Number:   C06.552.830.150
C16.320.850.742.150
C17.800.827.742.150
C18.452.811.400.150
Definition English:   An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. 
See Related English:   Hydroxymethylbilane Synthase
 
History Note English:   1993 
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:   30609 
Unique Identifier:   D017118 

Occurrence in VHL: 		 

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