Search on: CITRULLINEMIA 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Citrullinemia 
Descriptor Spanish:   Citrulinemia 
Descriptor Portuguese:   Citrulinemia 
Synonyms English:   ASS Deficiencies
ASS Deficiency
Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiencies
Argininosuccinate Synthetase Deficiency
Argininosuccinic Acid Synthase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency
Argininosuccinic Acid Synthetase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Citrullinemia, Classical
Citrullinemia, Late Onset
Citrullinemia, Late-Onset
Citrullinemia, Neonatal
Citrullinemia, Type I
Citrullinemias
Citrullinemias, Classic
Citrullinemias, Classical
Citrullinemias, Late-Onset
Citrullinemias, Neonatal
Citrullinuria
Citrullinurias
Classic Citrullinemia
Classic Citrullinemias
Classical Citrullinemia
Classical Citrullinemias
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiencies, ASS
Deficiencies, Argininosuccinate Synthetase
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase
Deficiency, ASS
Deficiency, Argininosuccinate Synthetase
Deficiency, Argininosuccinic Acid Synthetase, Complete
Deficiency, Argininosuccinic Acid Synthetase, Partial
Late-Onset Citrullinemia
Late-Onset Citrullinemias
Neonatal Citrullinemia
Neonatal Citrullinemias
Partial Argininosuccinic Acid Synthetase Deficiency Disease
Type 1, Citrullinemia
Type I Citrullinemia
Type I Citrullinemias  
Tree Number:   C10.228.140.163.100.937.374
C16.320.565.100.940.374
C16.320.565.189.937.374
C18.452.132.100.937.374
C18.452.648.100.940.374
C18.452.648.189.937.374
Definition English:   A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49) 
See Related English:   Argininosuccinate Synthase
 
History Note English:   2000 
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:   34230 
Unique Identifier:   D020159 

Occurrence in VHL:
 

Similar:

 
DeCS