Number of the records: 1
citrulinémia
Record number d020159 Date 06.06.2025 Type M - MESH Topical term citrulinémia Other term English (Pseudonym) Argininosuccinate Synthase Deficiency Disease
English (Pseudonym) Argininosuccinate Synthetase Deficiency
English (Pseudonym) Argininosuccinic Acid Synthetase Deficiency
English (Pseudonym) ASS Deficiency
English (Pseudonym) Citrullinemia 1
English (Pseudonym) Citrullinemia, Classic
English (Pseudonym) Citrullinemia Type 1
English (Pseudonym) Deficiency Disease, Argininosuccinate Synthase
English (Pseudonym) Deficiency Disease, Argininosuccinic Acid Synthase
Slovak (Pseudonym) choroba z deficitu arginínsukcinát syntázy
Slovak (Pseudonym) choroba z deficitu arginínsukcinát syntetázy
Slovak (Pseudonym) deficit ASS
Slovak (Pseudonym) citrulinémia 1
Slovak (Pseudonym) citrulinémia, typ 1
Slovak (Pseudonym) citrulinémia, typ I
Slovak (Pseudonym) citrulinémia klasická
Slovak (Pseudonym) citrulinémia s neskorým nástupom
Slovak (Pseudonym) citrulinémia neonatálna
Slovak (Pseudonym) citrulinúria
Slovak (Pseudonym) ochorenie spôsobené deficitom syntázy kyseliny arginínosukcínovej
Slovak (Pseudonym) deficit syntetázy kyseliny arginínosukcínovej
Slovak (Pseudonym) deficit syntetázy kyseliny arginínosukcínovej, čiastočný
Slovak (Pseudonym) deficit syntetázy kyseliny arginínosukcínovej, celkový
Slovak (Pseudonym) ochorenie spôsobené kompletným (úplným) deficitom syntetázy kyseliny arginínosukcínovej
Slovak (Pseudonym) ochorenie spôsobené parciálnym deficitom syntetázy kyseliny arginínosukcínovej
See also (Later heading) arginínsukcinátsyntáza
(Skutočné meno) arginínsukcinátsyntáza
UDC C10.228.140.163.100.937.374C16.320.565.100.940.374C16.320.565.189.937.374C18.452.132.100.937.374C18.452.648.100.940.374C18.452.648.189.937.374 Note 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) 
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Number of the records: 1