Argininosuccinic Acid
Argininosuccinic Aciduria
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Argininosuccinate Lyase
Amino Acid Metabolism, Inborn Errors
Argininosuccinate Synthase
Medical History Taking
Sulfite Oxidase
Metabolism, Inborn Errors
Cerebrospinal Fluid
Uric Acid
Sulfite Reductase (Ferredoxin)
Oxidoreductases Acting on Sulfur Group Donors
Protein Disulfide Reductase (Glutathione)
Rare Diseases
Orphan Drug Production
Drug Repositioning
Terminology as Topic
Lymphangioleiomyomatosis
A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).
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A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.
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Analysis of pyrimidine synthesis "de novo" intermediates in urine and dried urine filter- paper strips with HPLC-electrospray tandem mass spectrometry. (1/21)
BACKGROUND: The concentrations of the pyrimidine "de novo" metabolites and their degradation products in urine are useful indicators for the diagnosis of an inborn error of the pyrimidine de novo pathway or a urea-cycle defect. Until now, no procedure was available that allowed the analysis of all of these metabolites in a single analytical run. We describe a rapid, specific method to measure these metabolites by HPLC-tandem mass spectrometry. METHODS: Urine or urine-soaked filter-paper strips were used to measure N-carbamyl-aspartate, dihydroorotate, orotate, orotidine, uridine, and uracil. Reversed-phase HPLC was combined with electrospray ionization tandem mass spectrometry, and detection was performed by multiple-reaction monitoring. Stable-isotope-labeled reference compounds were used as internal standards. RESULTS: All pyrimidine de novo metabolites and their degradation products were measured within a single analytical run of 14 min with lower limits of detection of 0.4-3 micromol/L. The intra- and interassay variation for urine with added compounds was 1.2-5% for urines and 2-9% for filter-paper extracts of the urines. Recoveries of the added metabolites were 97-106% for urine samples and 97-115% for filter-paper extracts of the urines. Analysis of urine samples from patients with a urea-cycle defect or pyrimidine degradation defect showed an aberrant metabolic profile when compared with controls. CONCLUSION: HPLC with electrospray ionization tandem mass spectrometry allows rapid testing for disorders affecting the pyrimidine de novo pathway. The use of filter-paper strips could facilitate collection, transport, and storage of urine samples. (+info)Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (2/21)
Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led to an emerging, longer-lived cohort of patients. The natural history of some of these disorders began to point to pathophysiological processes that may be unrelated to the primary cause of acute morbidity and mortality, i.e., hyperammonemia. Carbamyl phosphate synthetase I single nucleotide polymorphisms may be associated with altered vascular resistance that becomes clinically relevant when specific environmental stressors are present. Patients with argininosuccinic aciduria due to a deficiency of argininosuccinic acid lyase are uniquely prone to chronic hepatitis, potentially leading to cirrhosis. Moreover, our recent observations suggest that there may be an increased prevalence of essential hypertension. In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia. An intriguing potential pathophysiological link is the dysregulation of intracellular arginine availability and its potential effect on nitric oxide (NO) metabolism. By combining detailed natural history studies with the development of tissue-specific null mouse models for urea cycle enzymes and measurement of nitrogen flux through the cycle to urea and NO in UCD patients, we may begin to dissect the contribution of different sources of arginine to NO production and the consequences on both rare genetic and common multifactorial diseases. (+info)Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. (3/21)
An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs. (+info)Contrasting features of urea cycle disorders in human patients and knockout mouse models. (4/21)
The urea cycle exists for the removal of excess nitrogen from the body. Six separate enzymes comprise the urea cycle, and a deficiency in any one of them causes a urea cycle disorder (UCD) in humans. Arginase is the only urea cycle enzyme with an alternate isoform, though no known human disorder currently exists due to a deficiency in the second isoform. While all of the UCDs usually present with hyperammonemia in the first few days to months of life, most disorders are distinguished by a characteristic profile of plasma amino acid alterations that can be utilized for diagnosis. While enzyme assay is possible, an analysis of the underlying mutation is preferable for an accurate diagnosis. Mouse models for each of the urea cycle disorders exist (with the exception of NAGS deficiency), and for almost all of them, their clinical and biochemical phenotypes rather closely resemble the phenotypes seen in human patients. Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders. (+info)Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency? (5/21)
(+info)Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. (6/21)
(+info)Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (7/21)
(+info)Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (8/21)
Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome. (+info)
Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD - Full Text View - ClinicalTrials.gov
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List of OMIM disorder codes
ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 ... AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true ... MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; ... LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2 ...
Argininosuccinate lyase
... which can explain the developmental delay in argininosuccinic aciduria patients. One mutation in patients with argininosuccinic ... Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in ... aciduria occurs when glutamine 286 is mutated to arginine. The enzyme now has a positively charged arginine in place of a ...
Charles Enrique Dent
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria ...
Urea cycle
Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia ... Most urea cycle disorders are associated with hyperammonemia, however argininemia and some forms of argininosuccinic aciduria ...
Trichorrhexis nodosa
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky ...
List of disorders included in newborn screening programs
1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in 100,000 Citrullinemia (CIT) < 1 in 100,000 Phenylketonuria (PKU) > 1 in ... 1 in 75,000 Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000 Beta-ketothiolase deficiency (BKT) < 1 in ... Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase ...
List of lay Catholic scientists
... argininosuccinic aciduria and homocystinuria René Descartes (1596-1650) - father of modern philosophy and analytic geometry ...
ASA
... the blood vessel which supplies the anterior portion of the spinal cord Argininosuccinic aciduria, a disorder of the urea cycle ...
Chromosome 7
... argininosuccinic aciduria cerebral cavernous malformation Charcot-Marie-Tooth disease Cholestasis, progressive familial ...
Newborn screening
Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...
List of diseases (A)
Argentine hemorrhagic fever Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria ...
Argininosuccinic aciduria
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
Succinic semialdehyde dehydrogenase deficiency
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ... also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder[1] of the ... 4-hydroxybutyric aciduria)" (pdf). American Journal of Human Genetics. 63 (2): 399-408. doi:10.1086/301964. PMC 1377305 . PMID ... γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and ...
Tyrosinemia type II
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
Histidinemia
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
Ocular albinism
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
3-Methylcrotonyl-CoA carboxylase deficiency
Argininosuccinic aciduria. *Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency ...
Kromosomang 7 (tao), ang malayang ensiklopedya
argininosuccinic aciduria. *cerebral cavernous malformation. *Charcot-Marie-Tooth disease. *Charcot-Marie-Tooth disease, type 2 ...
Argininosuccinic aciduria: MedlinePlus Genetics
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... medlineplus.gov/genetics/condition/argininosuccinic-aciduria/ Argininosuccinic aciduria. ... Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed ...
Argininosuccinic aciduria - Wikipedia
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or ...
Argininosuccinic Aciduria - ONA
Who is at Risk for Developing Argininosuccinic Aciduria?. Argininosuccinic aciduria is a rare disorder and may be one of many ... What is the Cause of Argininosuccinic Aciduria?. Etiology. Pathophysiology. Argininosuccinic aciduria is caused by mutations in ... Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more ... Argininosuccinic Aciduria [argininosuccinate lyase deficiency. Are You Confident of the Diagnosis?. What you should be alert ...
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder - Full Text View - ClinicalTrials...
Argininosuccinic Aciduria Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders Drug: Sodium Phenylbutyrate Drug: Arginine ... Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder. The safety and scientific ... Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of ... Argininosuccinic Aciduria. Brain Diseases, Metabolic, Inborn. Brain Diseases, Metabolic. Brain Diseases. Central Nervous System ...
Argininosuccinic aciduria | definition of argininosuccinic aciduria by Medical dictionary
What is argininosuccinic aciduria? Meaning of argininosuccinic aciduria medical term. What does argininosuccinic aciduria mean? ... Looking for online definition of argininosuccinic aciduria in the Medical Dictionary? argininosuccinic aciduria explanation ... argininosuccinic aciduria. Also found in: Wikipedia. argininosuccinic aciduria. [MIM*207900] an autosomal-recessive disorder ... Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.. Argininosuccinic aciduria in a ...
Argininosuccinic aciduria Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Argininosuccinic aciduria information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, ... Contents for Argininosuccinic aciduria: *Argininosuccinic aciduria *What is Argininosuccinic aciduria? *Prevalence and ... Causes of Argininosuccinic aciduria *Symptoms of Argininosuccinic aciduria *Diagnostic Tests for Argininosuccinic aciduria * ... Home Testing and Argininosuccinic aciduria *Signs of Argininosuccinic aciduria *Complications of Argininosuccinic aciduria * ...
Argininosuccinic aciduria
... external resources argininosuccinate ICD-10 E72.2 ICD-9 270.6 OMIM 207900 Argininosuccinic ... Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes ammonia to accumulate in ... In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea ...
Argininosuccinic Aciduria; Arginino Succinase Deficiency
... On-line free medical diagnosis assistant. Ranked list of possible ... "Argininosuccinic Aciduria"Drugs, active principles and "Argininosuccinic Aciduria"Medicinal plantsQuestions and answers from ... Argininosuccinic Aciduria (Arginino Succinase Deficiency). Rare autosomal recessive disorder of the urea cycle which leads to ... the accumulation of argininosuccinic acid in body fluids and severe hyperammonemia. Clinical features of the neonatal onset of ...
Medical Home Portal - Argininosuccinic Aciduria
PubMed search for argininosuccinic aciduria, last 5 years.. Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, ... Argininosuccinic Aciduria - Information for Parents (STAR-G). A fact sheet, written by a genetic counselor and reviewed by ... Argininosuccinic Aciduria Acute Illness Protocol (NECMP). Guideline for clinicians treating the sick infant/child who has ... Argininosuccinic Aciduria (OMIM). Extensive review of literature providing technical information for providers on genetic ...
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria<...
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. Susan L. Hyman, Joseph T. Coyle, James C ... Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. The Journal of pediatrics. 1986 May;108( ... Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. / Hyman, Susan L.; Coyle, Joseph T.; ... N2 - We studied serotonin metabolism in a metabolically stable 7-year-old giri with argininosuccinic aciduria who had severe ...
Overview: What is argininosuccinic aciduria? | ThinkGenetic
Argininosuccinic aciduria is a rare genetic disorder. People with this disorder are deficient in or missing an enzyme called ... What is argininosuccinic aciduria?. Argininosuccinic aciduria is a rare genetic disorder. People with this disorder are ... Is there a patient registry for argininosuccinic aciduria?. Who else in my family should I test for argininosuccinic aciduria? ... Argininosuccinic aciduria can be very severe right from birth, or there may be forms of the disorder that do not develop until ...
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Argininosuccinic aciduria | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Argininosuccinic aciduria ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... Argininosuccinic aciduria Title Other Names:. Arginino succinase deficiency; Inborn error of urea synthesis, arginino succinic ... Argininosuccinic aciduria. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/argininosuccinic-aciduria ...
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Argininosuccinic Acid/urine , Argininosuccinic Aciduria/diagnosis , Argininosuccinic Aciduria/metabolism , Argininosuccinic ... Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian childr Argininosuccinic aciduria: clinical ... Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL- ... We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute ...
List of OMIM disorder codes - Wikipedia
ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 ... AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true ... MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; ... LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2 ...
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Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ... Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ... Argininosuccinic aciduria; Arthrogryposis, mental retardation, and seizures (AMRS); Aspartylglucosaminuria; Ataxia with vitamin ...
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Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.. Baruteau J, Perocheau DP, Hanley ... Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.. Baruteau J, Diez-Fernandez C, Lerner ... Expanding the phenotype in argininosuccinic aciduria: need for new therapies.. Baruteau J, Jameson E, Morris AA, Chakrapani A, ...
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DeficiencyCitrullinemiaHyperammonemiaOrotic aciduriaUrea cycle diInherited disorderLyaseInfant with argininosuccinic aciduriaPeople with argininosuccinic aciduriaPatients With Argininosuccinic AciduriaAutosomal recesHyperornithinemiaDisorder of the ureaGlutaric aciduriaLevels of argininosuccinic acidDisordersBiochemicalEnzymeCauses neurological problemsDiseasesMental retardationGenePhenotypeMetabolicSymptomsMetabolismSyndromeGeneticDevelopmental
Deficiency11
- The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (oncologynurseadvisor.com)
- Citrulline level is normal in arginine deficiency and is markedly elevated in argininosuccinic lyase deficiency, usually 100 times the upper limit of the normal range. (oncologynurseadvisor.com)
- Argininosuccinic acid in plasma and urine permits the specific diagnosis of Argininosuccinic lyase deficiency. (oncologynurseadvisor.com)
- presumed to be the consequence of a deficiency of an enzyme responsible for splitting argininosuccinic acid to arginine and fumaric acid. (thefreedictionary.com)
- In humans, the natural history of argininosuccinic aciduria caused by deficiency of ASL shows systemic and chronic features that reflect in part global dysregulation of NO homeostasis. (thefreedictionary.com)
- Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). (bvsalud.org)
- Argininosuccinate lyase deficiency (ASLD), which is also called argininosuccinic aciduria (ASA), is the second most common urea-cycle disorder, with an estimated incidence of 1:70,000 live births in the USA [ 1 ]. (hindawi.com)
- The long-awaited clinical trial 'Effect of Nitric Oxide Supplementation on Neurocognitive Functions in Patients With Argininosuccinate Lyase Deficiency/Argininosuccinic Aciduria (ASLD/ASA)' is now open for enrollment at Baylor College of Medicine (one of the UCD Research Consortium clinical research sites) in Houston, Texas. (nucdf.org)
- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. (semanticscholar.org)
- Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. (thermofisher.com)
- The specific disorders are: N-acetylglutamate synthase (NAGS) deficiency, Carbamyl phosphate synthetase I (CPSI) deficiency, Ornithine transcarbamylase (OTC) deficiency, Argininosuccinate synthetase (AS) deficiency (Citrullinemia), Argininosuccinate lyase (AL) deficiency (Argininosuccinic aciduria), Arginase (ARG) deficiency (Argininemia), Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine carrier deficiency-ORNT), and Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency-CITR). (pubmedcentralcanada.ca)
Citrullinemia2
- In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses. (thefreedictionary.com)
- The false-positive and -negative rates for acute neonatal citrullinemia and argininosuccinic aciduria appear to be low because we have diagnosed several cases in newborns. (thefreedictionary.com)
Hyperammonemia2
- Argininosuccinic aciduria is a rare disorder and may be one of many metabolic abnormalities considered in any child with significant metabolic derangements specifically associated with hyperammonemia. (oncologynurseadvisor.com)
- Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe hyperammonemia . (lookfordiagnosis.com)
Orotic aciduria1
- Quantification of orotic acid (uracil-6-carboxylic acid) in urine is an important tool to diagnose some inherited diseases, such as urea cycle disorder (OTCD) and hereditary orotic aciduria. (biomedsearch.com)
Urea cycle di4
- Argininosuccinic aciduria (ASA) is a type of urea cycle disorder that is characterized specifically by high levels of argininosuccinic acid, a chemical involved in the urea cycle. (clinicaltrials.gov)
- However, because ASA is the only urea cycle disorder that is characterized by both liver damage and elevated levels of argininosuccinic acid, researchers believe that the elevated acid levels cause the liver damage. (clinicaltrials.gov)
- Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. (uzh.ch)
- Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (uzh.ch)
Inherited disorder3
- Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. (medlineplus.gov)
- Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. (wikipedia.org)
- Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine. (evidence.nhs.uk)
Lyase7
- In people with argininosuccinic aciduria, argininosuccinate lyase is dysfunctional or missing. (medlineplus.gov)
- In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing. (wikipedia.org)
- Argininosuccinic aciduria is caused by mutations in the argininosuccinate lyase gene (ASL) which catalyzes the cleavage of the argininosuccinate to fumarate and arginine. (oncologynurseadvisor.com)
- Argininosuccinic lyase is involved in the conversion of the citrulline to arginine in other tissues. (oncologynurseadvisor.com)
- The enzyme argininosuccinic acid lyase is deficient, blocking conversion of argininosuccinate to fumarate and arginine. (medicalhomeportal.org)
- Patients with argininosuccinic aciduria lack 'argininosuccinate lyase', one of the liver enzymes that are needed to get rid of excess nitrogen. (europa.eu)
- The problem was that Jonathan's genetic disorder - argininosuccinic aciduria - meant that he lacked a functional gene to make an enzyme called argininosuccinate lyase. (healthcanal.com)
Infant with argininosuccinic aciduria2
- An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. (medlineplus.gov)
- An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
People with argininosuccinic aciduria1
- Since people with argininosuccinic aciduria cannot properly break down nitrogen into urea, nitrogen (in the form of ammonia) build up in the body. (thinkgenetic.com)
Patients With Argininosuccinic Aciduria2
- We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. (bvsalud.org)
- This occurs in patients with argininosuccinic aciduria, despite the fact that formation of this substance ensures incorporation of the 2 waste nitrogen molecules normally found in urea. (medscape.com)
Autosomal reces2
- Argininosuccinic aciduria is an autosomal recessive trait. (oncologynurseadvisor.com)
- Inherited as an autosomal recessive trait, argininosuccinic aciduria affects both sexes equally. (medscape.com)
Hyperornithinemia1
- Other disorders identified, including the hyperglycinemias, argininosuccinic aciduria, hyperlysinemia, hyperornithinemia, and the Fanconi syndrome (Group II) each has a frequency that seems to be no greater than 1:200,000 of the population. (aappublications.org)
Disorder of the urea2
- Argininosuccinic aciduria is a disorder of the urea acid cycle. (oncologynurseadvisor.com)
- What you should be alert for in the history Characteristic findings on physical examination Argininosuccinic aciduria is a disorder of the urea acid cycle. (thecardiologyadvisor.com)
Glutaric aciduria1
- Figure 8 MRI (T2 W) in a 15 months old baby with glutaric aciduria type 1. (biology-online.org)
Levels of argininosuccinic acid2
- Elevated levels of argininosuccinic acid (5-110 μmol/L) in the plasma or urine are diagnostic. (wikipedia.org)
- People with ASA are at risk for serious liver damage, which may be due to the elevated levels of argininosuccinic acid. (clinicaltrials.gov)
Disorders5
- Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. (wikipedia.org)
- Argininosuccinic aciduria is one of six disorders effecting the biosynthesis of enzymes of the urea cycle. (oncologynurseadvisor.com)
- Researchers have shown that infants and children with argininosuccinic aciduria have fewer episodes of metabolic crisis than infants and children with other urea cycle disorders. (thinkgenetic.com)
- Argininosuccinic aciduria is one of the inherited disorders known as 'urea cycle disorders', which cause ammonia to accumulate in the blood. (europa.eu)
- Networking across borders for individuals with organic acidurias and urea cycle disorders: The E-IMD Consortium. (rarediseasesnetwork.org)
Biochemical1
- Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (medlineplus.gov)
Enzyme2
- In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. (chemeurope.com)
- Under normal circumstances, citrulline is condensed with aspartic acid to form argininosuccinic acid (ASA), which is a reaction mediated by the argininosuccinic acid synthase enzyme. (love-pet.net)
Causes neurological problems2
- This buildup of ammonia damages the brain and other tissues and causes neurological problems and other signs and symptoms of argininosuccinic aciduria. (medlineplus.gov)
- Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
Diseases1
- Argininosuccinic aciduria is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
Mental retardation1
- Argininosuccinic aciduria is a long-term debilitating and life-threatening disease that leads to mental retardation and is associated with poor overall survival. (europa.eu)
Gene2
- Mutations in the ASL gene cause argininosuccinic aciduria. (medlineplus.gov)
- Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. (ucl.ac.uk)
Phenotype1
- Expanding the phenotype in argininosuccinic aciduria: need for new therapies. (thinkgenetic.com)
Metabolic1
- Results from the metabolic screen indicate argininosuccinic aciduria , a urea cycle defect. (thefreedictionary.com)
Symptoms1
- More detailed information about the symptoms , causes , and treatments of Argininosuccinic aciduria is available below. (rightdiagnosis.com)
Metabolism1
- We studied serotonin metabolism in a metabolically stable 7-year-old giri with argininosuccinic aciduria who had severe anorexia. (elsevier.com)
Syndrome1
- 1 Congenital TN is rare and can occur in syndromes such as pseudomonilethrix, Netherton syndrome, pili annulati, 2 argininosuccinic aciduria, 3 trichothiodystrophy, 4 Menkes syndrome, 5 and trichohepatoenteric syndrome. (mdedge.com)
Genetic1
- Argininosuccinic aciduria is a rare genetic disorder. (thinkgenetic.com)
Developmental3
- Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. (medlineplus.gov)
- Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
- Complications from argininosuccinic aciduria may include developmental delay , intellectual disability , progressive liver damage, skin lesions, and brittle hair. (cdc.gov)