Argininosuccinate is converted by
argininosuccinase into fumarate and arginine.
In all patients with a deficiency of ornithine transcarbamylase or argininosuccinase, increased concentrations of N-C-aspartate and orotate were present in the urine (Table 6).
In our study, all four patients with a defect in either ornithine transcarbamylase or argininosuccinase presented with highly increased concentrations of orotate and N-C-aspartate.
Screening blood spots for
argininosuccinase deficiency by electrospray tandem mass spectrometry.
The peak ratio of citrulline to tyrosine acquired in the scan function for neutral loss of 119 Da was extremely useful for detecting several cases of argininosuccinic synthetase deficiency and
argininosuccinase deficiency [33].
Cheswick, PA 15024 (412) 767-6589 (412) 767-0534 (fax) * helpdesk@apraxia.org http://www.apraxia.org 1,2,4,7 AQUEDUCTAL STEN0SlS See: Hydrocephalus ARACHNODACTLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders
ARGININOSUCCINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD CHIARI MALFORMATION See also: Syringomyelia National Institute of Neurological Disorders (NIH) 31 Center Dr., MSC 2540 Bldg.
Cheswick, PA 15024 (412) 767-6589 (412) 767-0534 (fax) ??helpdesk@apraxia.org http://www.apraxia.org 1,2,4,7 AQUEDUCTAL STENOSIS See: Hydrocephalus ARACHNODACTYLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders
ARGININOSUCCINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD CHIARI MALFORMATION See also: Syringomyelia National Institute of Neurological Disorders (NIH) 31 Center Dr., MSC 2540 Bldg.
Pensacola, FL 32514 (904) 478-4895 (voice/fax) (904) 494-1444 (TTY) ??dyspraxia@aol.com 1,2,3,4,7,9 AQUEDUCTAL STENOSIS See: Hydrocephalus ARACHNODACTYLY See: Marfan Syndrome AREGENERATIVE ANEMIA See: Anemia, Aplastic ARGINASE DEFICIENCY See: Urea Cycle Disorders
ARGININOSUCCINASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY See: Urea Cycle Disorders ARGININOSUCCINIC ACIDURIA See: Urea Cycle Disorders ARNOLD-CHIARI MALFORMATION See also: Spina Bifida; Syringomyelia Arnold-Chiari Family Network c/o Maureen & Kevin Walsh 67 Spring St Weymouth.