Descriptors Found: 1
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Descriptor English:   Citrullinemia 
Descriptor Spanish:   Citrulinemia 
Descriptor Portuguese:   Citrulinemia 
Synonyms English:   Argininosuccinic Acid Synthase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
Citrullinemia, Classical
Citrullinemia, Late-Onset
Citrullinemia, Neonatal
Citrullinemia, Type I
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiency, Argininosuccinic Acid Synthetase, Complete
Deficiency, Argininosuccinic Acid Synthetase, Partial
Partial Argininosuccinic Acid Synthetase Deficiency Disease
ASS Deficiencies
Argininosuccinate Synthetase Deficiencies
Citrullinemia, Late Onset
Citrullinemias, Classic
Citrullinemias, Classical
Citrullinemias, Late-Onset
Citrullinemias, Neonatal
Classic Citrullinemia
Classic Citrullinemias
Classical Citrullinemia
Classical Citrullinemias
Deficiencies, ASS
Deficiencies, Argininosuccinate Synthetase
Deficiency, ASS
Deficiency, Argininosuccinate Synthetase
Late-Onset Citrullinemia
Late-Onset Citrullinemias
Neonatal Citrullinemia
Neonatal Citrullinemias
Type 1, Citrullinemia
Argininosuccinate Synthase Deficiency Disease
Argininosuccinate Synthetase Deficiency
Argininosuccinic Acid Synthetase Deficiency
ASS Deficiency
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase  
Tree Number:   C10.
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: