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UROPORPHYRINOGEN SYNTHASE DEFICIENCY
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DeCS
Descriptor
English
:
Porphyria, Acute Intermittent
Descriptor
Spanish
:
Porfiria Intermitente Aguda
Descriptor
Portuguese
:
Porfiria Aguda Intermitente
Synonyms
English
:
Hydroxymethylbilane Synthase Deficiency
Uroporphyrinogen Synthase Deficiency
Tree Number:
C06.552.830.150
C16.320.565.708.400.150
C16.320.850.742.150
C17.800.827.742.150
C17.800.849.617.400.150
C18.452.648.708.400.150
C18.452.811.400.150
C18.452.880.617.400.150
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
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
30609
Unique Identifier:
D017118
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
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