Argininosuccinic Acid

ARGININOSUCCINIC ACID IN MONILETHRIX

The Lancet ◽

10.1016/s0140-6736(66)90684-2 ◽

1966 ◽

Vol 287 (7432) ◽

pp. 321-322 ◽

Cited By ~ 16

Author(s):

MaryL. Efron ◽

Dick Hoefnagel

Keyword(s):

Argininosuccinic Acid

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Unraveling the Cyclization of l-Argininosuccinic Acid in Biological Samples: A Study via Mass Spectrometry and NMR Spectroscopy

Analytical Chemistry ◽

10.1021/acs.analchem.0c01420 ◽

2020 ◽

Vol 92 (19) ◽

pp. 12891-12899

Author(s):

Maricruz Mamani-Huanca ◽

Ana Gradillas ◽

Ángeles López-Gonzálvez ◽

Coral Barbas

Keyword(s):

Mass Spectrometry ◽

Nmr Spectroscopy ◽

Biological Samples ◽

Argininosuccinic Acid

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Nuclear magnetic resonance study of the anhydrides of argininosuccinic acid and related guanidino compounds

Biochemistry ◽

10.1021/bi00831a020 ◽

1969 ◽

Vol 8 (3) ◽

pp. 899-907 ◽

Cited By ~ 13

Author(s):

Arthur Kowalsky ◽

Sarah Ratner

Keyword(s):

Nuclear Magnetic Resonance ◽

Magnetic Resonance ◽

Nuclear Magnetic Resonance Study ◽

Magnetic Resonance Study ◽

Guanidino Compounds ◽

Argininosuccinic Acid ◽

Nuclear Magnetic

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Antenatal Diagnosis of Defects of Ureagenesis

PEDIATRICS ◽

10.1542/peds.68.3.446 ◽

1981 ◽

Vol 68 (3) ◽

pp. 446-447

Author(s):

S. I. Goodman

Keyword(s):

Amniotic Fluid ◽

Exchange Chromatography ◽

Cell Protein ◽

Inborn Errors ◽

Intrauterine Diagnosis ◽

Glomerular Filtrate ◽

Fetal Urine ◽

Argininosuccinic Aciduria ◽

Amniotic Cells ◽

Argininosuccinic Acid

The approach usually taken to the intrauterine diagnosis of inborn errors of metabolism is to assay a particular enzyme in cultured amniotic cells, the rationale being that if the enzyme is normally present, its absence can be used to indicate fetal disease. Of the five inborn errors of ureagenesis, however, only two, ie citrullinemia and argininosuccinic aciduria, can be diagnosed in this manner because argininosuccinic acid synthetase and argininosuccinic acid lyase are the only urea cycle enzymes normally found in these cells. Both of these disorders have now been detected in utero,87,88 (S. D. Cederbaum and C. R. Scott, unpublished observations, 1980), and several other fetuses at risk have been correctly diagnosed as unaffected88-90 (S. I. Goodman, unpublished observations, 1980). Enzyme deficiency in cultured amniotic cells can be demonstrated directly21,22,91 or by examining the incorporation of 14C into arginine or cell protein.21,73,88,89,92 Further, fetuses with argininosuccinic aciduria have shown increased concentrations of argininosuccinic acid in amniotic fluid at amniocentesis87,88 (S. D. Cederbaum, unpublished observations, 1980) and delivery,93 with its amount remaining undetected when the fetus was not affected88 (S. I. Goodman, unpublished observations, 1980). Argininosuccinic acid is accumulated by the affected fetus, eg it is the most prominent free amino acid in its liver87,94 and, as it is poorly reabsorbed from the glomerular filtrate by cells of the proximal tubule,71 it probably enters the amniotic fluid in fetal urine.95 Thus, provided that a fetus has an intact urinary tract, whether or not it has argininosuccinic aciduria can probably be established within hours of amniocentesis merely by examining the fluid for the acid and/or its anhydrides by ion-exchange chromatography.

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Introduction to Urea Cycle Symposium

PEDIATRICS ◽

10.1542/peds.68.2.271 ◽

1981 ◽

Vol 68 (2) ◽

pp. 271-272

Author(s):

Richard Koch

Keyword(s):

Metabolic Diseases ◽

Urea Cycle ◽

Medical Center ◽

Ammonia Level ◽

Enzyme Analysis ◽

Clinical Impression ◽

University Of Southern California ◽

High Risk Infants ◽

Carbamylphosphate Synthetase ◽

Argininosuccinic Acid

When Donough O'Brien reviewed the field of metabolic diseases in 1965, he discussed disorders implicating carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinic acid (ASA) synthetase, and argininosuccinic acid lyase. Arginase defects had not yet been encountered. Several cases of argininosuccinic aciduria had been reported, but only single cases of CPS, OTC, and ASA synthetase defects had been described. The succeeding 15 years have seen much progress in this field, much of it reflecting the efforts of individuals participating in this program. My first contact with disorders of the urea cycle was in 1976 when a suspected OTC deficiency in a female infant was identified by Dr Kenneth Shaw, for a colleague of ours at the University of Southern California Medical Center. I was asked to help with the care of that infant, who died many months later of meningitis. Largely due to Ken's indefatigable efforts in screening high-risk infants for metabolic diseases, we have seen various urea cycle defects identified in several other infants. However, we have sometimes encountered the unexpected in attempting to confirm the clinical diagnosis by enzyme analysis. The following comments on two patients exemplify the situation. Patient C.S. was in a coma on admission; his blood ammonia level was 895 µg/100 ml. Urinary orotic acid levels were elevated and our clinical impression was that the patient had a variant of an OTC defect. Analysis of the liver biopsy specimen revealed 35% CPS, 42% OTC, 24% ASA synthetase, 100% ASA lyase, and 31% arginase. Patient N.G. was born in a nearby medical center and shortly thereafter became lethargic, vomited, and lapsed into a coma.

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A Neonatal Screening Test for Argininosuccinic Acid Lyase Deficiency and Other Urea Cycle Disorders

PEDIATRICS ◽

10.1542/peds.70.4.526 ◽

1982 ◽

Vol 70 (4) ◽

pp. 526-531

Author(s):

Henry W. Talbot ◽

Adam B. Sumlin ◽

Edwin W. Naylor ◽

Robert Guthrie

Keyword(s):

Screening Test ◽

Multiple Testing ◽

Large Scale ◽

Urea Cycle ◽

Newborn Infants ◽

Urea Cycle Disorders ◽

Gyrate Atrophy ◽

Lyase Deficiency ◽

Cycle Disorders ◽

Argininosuccinic Acid

A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing multiple testing programs presently used in screening for phenylketonuria or congenital hypothyroidism. This assay can be used to detect patients with citrullinemia, argininosuccinic acid lyase deficiency, and argininemia. In addition to these urea cycle disorders, the several types of ornithinemia, which can result in gyrate atrophy of the retina or mental retardation, should be detectable with this assay. The strengths and weaknesses of this assay are discussed and a large-scale pilot screening trial is proposed.

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