Citrullinemia [citrulinemie]

topical
2
Terms

argininosukcinátsynthasa - nedostatek
částečný deficit argininosukcinátsynthasy
částečný deficit argininsukcinátsyntetázy
citrulinémie
citrulinemie s pozdním nástupem
citrulinemie typ 1
citrulinémie typ 1
citrulinemie typu 1
nedostatek argininosukcinátsyntházy
nemoc z částečného nedostatku argininosukcinátsynthasy
nemoc z částečného nedostatku argininsukcinátsyntetázy
nemoc z úplného nedostatku argininosukcinátsynthasy
nemoc z úplného nedostatku argininsukcinátsyntetázy
neonatální citrulinemie
novorozenecká citrulinemie
pozdní citrulinemie
úplný deficit argininosukcinátsynthasy
úplný deficit argininsukcinátsyntetázy

 

Argininosuccinate Synthase Deficiency Disease
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
ASS Deficiency
Citrullinemia 1
Citrullinemia Type 1
Citrullinemia, Classic
Citrullinemia, Classical
Citrullinemia, Late-Onset
Citrullinemia, Neonatal
Citrullinemia, Type I
Citrullinuria
Complete Argininosuccinic Acid Synthetase Deficiency Disease
Deficiency Disease, Argininosuccinate Synthase
Deficiency Disease, Argininosuccinic Acid Synthase
Deficiency, Argininosuccinic Acid Synthetase, Complete
Deficiency, Argininosuccinic Acid Synthetase, Partial
Partial Argininosuccinic Acid Synthetase Deficiency Disease

Persistent link   https://www.medvik.cz/link/D020159
Definition

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)

DUI
D020159 MeSH Browser
CUI
M0328360
Previous indexing
Amino Acid Metabolism, Inborn Errors (1965-1999); Argininosuccinate Synthase/deficiency (1975-1999)
History note
2000
Public note
2000

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 1
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 1
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

C Diseases
C10 Nervous System Diseases 1 878
C10.228 Central Nervous System Diseases 808
C10.228.140 Brain Diseases 1 178
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn 7
C10.228.140.163.100.937.124 Argininosuccinic Aciduria 2
C10.228.140.163.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C10.228.140.163.100.937.374 Citrullinemia 2
C10.228.140.163.100.937.500 Hyperargininemia 2
C10.228.140.163.100.937.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.565.100.940.124 Argininosuccinic Aciduria 2
C16.320.565.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C16.320.565.100.940.374 Citrullinemia 2
C16.320.565.100.940.500 Hyperargininemia 2
C16.320.565.100.940.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.937 Urea Cycle Disorders, Inborn 7
C16.320.565.189.937.124 Argininosuccinic Aciduria 2
C16.320.565.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C16.320.565.189.937.374 Citrullinemia 2
C16.320.565.189.937.500 Hyperargininemia 2
C16.320.565.189.937.750 Ornithine Carbamoyltransferase Deficiency Disease 19
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.937 Urea Cycle Disorders, Inborn 7
C18.452.132.100.937.124 Argininosuccinic Aciduria 2
C18.452.132.100.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.132.100.937.374 Citrullinemia 2
C18.452.132.100.937.437 Hyperargininemia 2
C18.452.132.100.937.500 Ornithine Carbamoyltransferase Deficiency Disease 19
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.940 Urea Cycle Disorders, Inborn 7
C18.452.648.100.940.124 Argininosuccinic Aciduria 2
C18.452.648.100.940.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.648.100.940.374 Citrullinemia 2
C18.452.648.100.940.437 Hyperargininemia 2
C18.452.648.100.940.500 Ornithine Carbamoyltransferase Deficiency Disease 19
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.937 Urea Cycle Disorders, Inborn 7
C18.452.648.189.937.124 Argininosuccinic Aciduria 2
C18.452.648.189.937.249 Carbamoyl-Phosphate Synthase I Deficiency Disease 1
C18.452.648.189.937.374 Citrullinemia 2
C18.452.648.189.937.437 Hyperargininemia 2
C18.452.648.189.937.500 Ornithine Carbamoyltransferase Deficiency Disease 19

Adult-onset citrullinemia type 2 Disease MeSH Browser

CTNL1 Disease MeSH Browser

Neonatal-onset citrullinemia type 2 Disease MeSH Browser

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