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, Classic

Citrullinemias, Classical

Citrullinemias, Late-Onset

Citrullinemias, Neonatal



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

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)