Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
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)
The sodium salt of BENZOIC ACID. It is used as an antifungal preservative in pharmaceutical preparations and foods. It may also be used as a test for liver function.
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
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.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
A carbonic anhydrase isoenzyme found in MITOCHONDRIA where it provides bicarbonate ions that are components in the urea cycle and in GLUCONEOGENESIS.
This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.
A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)
A mitochondrial matrix enzyme that catalyzes the synthesis of L-GLUTAMATE to N-acetyl-L-glutamate in the presence of ACETYL-COA.
A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC 2.1.3.3.
An aspartate aminotransferase found in MITOCHONDRIA.
An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5.
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.
A fungistatic compound that is widely used as a food preservative. It is conjugated to GLYCINE in the liver and excreted as hippuric acid.
An enzyme that catalyzes the conversion of L-glutamate and water to 2-oxoglutarate and NH3 in the presence of NAD+. (From Enzyme Nomenclature, 1992) EC 1.4.1.2.
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.
An amino acid produced in the urea cycle by the splitting off of urea from arginine.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.
An enzyme that catalyzes the conversion of ATP, L-glutamate, and NH3 to ADP, orthophosphate, and L-glutamine. It also acts more slowly on 4-methylene-L-glutamate. (From Enzyme Nomenclature, 1992) EC 6.3.1.2.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Surgical portasystemic shunt between the portal vein and inferior vena cava.
An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle. Absence or lack of this enzyme may cause CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE. EC 6.3.4.16.
A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.
An essential amino acid that is physiologically active in the L-form.
An enzyme of the urea cycle which splits argininosuccinate to fumarate plus arginine. Its absence leads to the metabolic disease ARGININOSUCCINIC ACIDURIA in man. EC 4.3.2.1.
A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
Derivatives of ACETIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxymethane structure.
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
A ureahydrolase that catalyzes the hydrolysis of arginine or canavanine to yield L-ornithine (ORNITHINE) and urea. Deficiency of this enzyme causes HYPERARGININEMIA. EC 3.5.3.1.
Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and glutamine. This enzyme is important in the de novo biosynthesis of pyrimidines. EC 6.3.5.5.
Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction.
A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).
The monoanhydride of carbamic acid with PHOSPHORIC ACID. It is an important intermediate metabolite and is synthesized enzymatically by CARBAMYL-PHOSPHATE SYNTHASE (AMMONIA) and CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING).
An enzyme that, in the course of pyrimidine biosynthesis, catalyzes ring closure by removal of water from N-carbamoylaspartate to yield dihydro-orotic acid. EC 3.5.2.3.
The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.
K-Cl cotransporter ubiquitously expressed with higher expression levels in ERYTHROCYTES of ANEMIA, SICKLE CELL. It mediates active potassium and chloride cotransport across the plasma membrane and contributes to cell volume homeostasis
Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.
Na-Cl cotransporter in the convoluted segments of the DISTAL KIDNEY TUBULE. It mediates active reabsorption of sodium and chloride and is inhibited by THIAZIDE DIURETICS.
Databases devoted to knowledge about specific genes and gene products.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
"Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene". Human Genetics. ... The human OTC gene is located on the short arm of chromosome X (Xp21.1). The gene is located in the Watson (plus) strand and is ... 149 of these mutations are known to cause onset of hyperammonemia during the first weeks of life. 70 manifest as hyperammonemia ... Accumulation of ammonia in the blood is known as hyperammonemia. As ammonia, though toxic, is a nitrogen source for the body, ...
The gene has the highest expression in the liver and kidney, but is also expressed in almost every human tissue. Overexpression ... Some such substrates are linked to diseases or conditions such as hyperammonemia. A list of some of the substrates that omega- ... of the NIT2 gene results in decreasing cell proliferation and growth in HeLa cells, which indicates that the gene may have a ... amidase catalyzes may be found in Table 1. The NIT2 gene in humans has been found to be identical to omega-amidase. ...
1998). "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene". N. Engl. ... 2000). "Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome ... Michaelidis TM, Tzimagiorgis G, Moschonas NK, Papamatheakis J (1993). "The human glutamate dehydrogenase gene family: gene ... "Entrez Gene: GLUDP5 glutamate dehydrogenase pseudogene 5". Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital ...
"Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia". Hum Genet. ... The cause for this disorder is a single base deletion that led to frameshift mutation, and thus the error in gene's coding for ... Hyperammonemia Urea cycle Hall L, Metzenberg R, Cohen P (1958). "Isolation and characterization of a naturally occurring ... The chromosome found to be carrying the gene encoding for N-Acetyl Glutamate synthetase is chromosome 17q (q stands for longer ...
The "MCEE" gene is located in the 2p13 region and contains 4 exons, and encodes for a protein that is approximately 18 kDa in ... Patients with MCEED may present with life-threatening neonatal metabolic acidosis, hyperammonemia, feeding difficulties, and ... The MCEE gene encodes an enzyme that interconverts D- and L- methylmalonyl-CoA during the degradation of branched-chain amino ... Mutations in the MCEE gene causes methymalonyl-CoA epimerase deficiency (MCEED), a rare autosomal recessive inborn error of ...
The enzyme, ornithine aminotransferase is coded for by the gene OAT, located at 10q26. OAT deficiency has an increased ... These individuals present with hyperammonemia, poor feeding, failure to thrive and increased excretion of orotic acid. OAT ... hyperammonemia, homocitrullinuria syndrome, HHH syndrome). Ornithine concentrations can be an unreliable indicator in the ...
Mutations in the gene encoding this enzyme give rise to an autosomal recessive syndrome of osteopetrosis, renal tubular ... Electrolyte imbalances remain the same, while in severe cases symptoms can advance to amino aciduria and hyperammonemia. In a ... Clericetti CM, Milani GP, Lava SA, Bianchetti MG, Simonetti GD, Giannini O (March 2018). "Hyperammonemia associated with distal ... Clinical manifestations in patients with different underlying gene mutations". Pediatric Nephrology. 33 (9): 1523-1529. doi: ...
Gene therapy had been considered a possibility for curative treatment for OTC deficiency, and clinical trials were taking place ... In individuals with marked hyperammonemia, a urea cycle disorder is usually high on the list of possible causes. While the ... Experimental trials of gene therapy using adenoviral vectors resulted in the death of one participant, Jesse Gelsinger, and ... OTC deficiency is caused by mutations in the OTC gene, which is located on the X chromosome. OTC codes for the mitochondrial ...
... genes and disease genes but other unidentified genes as well. C22orf25 is in close proximity to DGCR8 as well as other genes ... These mutations results in early onset hypoglycemia, hyperammonemia, rhabdomyolysis, cardiac arrhythmias, and encephalopathy ... The C22orf25 gene is located on the long arm (q) of chromosome 22 in region 1, band 1, and sub-band 2 (22q11.21) starting at ... The gene coding for C22orf25 is located on chromosome 22 and the location q11.21, so it is often associated with 22q11.2 ...
Patients suffering from the deficiency either have a complete gene lesion, designated as mut0 or a partial mutation in the form ... Newborn babies experience with vomiting, acidosis, hyperammonemia, hepatomegaly (enlarged livers), hyperglycinemia (high ... There is no treatment for complete lesion of the mut0 gene, though several treatments can help those with slight genetic ... Methylmalonyl-CoA mutase deficiency is caused by genetic defect in the MUT gene responsible for encoding the enzyme. Deficiency ...
... is a protein that in humans is encoded by the TANGO2 gene. The gene coding for C22orf25 is located on chromosome 22 and the ... These mutations results in early onset hypoglycemia, hyperammonemia, rhabdomyolysis, cardiac arrhythmias, and encephalopathy ... None of the genes affected in individuals with 22q11.2DS have previously been linked to PD but there are a number that are ... The number of genes affected by the deletion has been cited as approximately 30 to 50. Very rarely, patients with somewhat ...
Eugene; Dagon, Yossi; Denney, William S.; Wagner, David A. (2019-01-16). "An engineered E. coli Nissle improves hyperammonemia ... "Gene Circuits Empower Next-Generation Cell and Gene Therapies". GEN - Genetic Engineering and Biotechnology News. 1 February ... Kitada, Tasuku; DiAndreth, Breanna; Teague, Brian; Weiss, Ron (2018-02-09). "Programming gene and engineered-cell therapies ...
SLC25A15 human gene details in the UCSC Genome Browser. v t e. ... and a form of hyperammonemia. Translocase ornithine+translocase ... at the US National Library of Medicine Medical Subject Headings (MeSH) SLC25A15 human gene location in the UCSC Genome Browser ...
... which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited ... Other signs that are often present include ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart ... The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not ... This disorder can cause sudden infant death.[citation needed] Mutations in the SLC25A20 gene lead to the production of a ...
Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may ... Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a ... "Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene ... "Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene ...
Mutations in the ASS gene cause type I citrullinemia. The enzyme made by this gene, argininosuccinate synthetase (EC 6.3.4.5), ... Hyperammonemia Citrullinemia type I Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw- ... Mutations in the SLC25A13 gene are responsible for type II citrullinemia. This gene makes a protein called citrin, which ... Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder. ...
Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. ... "Entrez Gene: Arginase, liver". [provided by RefSeq, Sep 2011] Human ARG1 genome location and ARG1 gene details page in the UCSC ... The human ARG1 gene encodes the protein arginase. Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least ... The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the ...
Research on E. coli revealed that GS is regulated through gene expression. The gene that encodes the GS subunit is designated ... "Effect of glutamine synthetase inhibition on astrocyte swelling and altered astroglial protein expression during hyperammonemia ... "Evolution of the glutamine synthetase gene, one of the oldest existing and functioning genes". Proc. Natl. Acad. Sci. U.S.A. 90 ... The cytosolic GS gene translation is regulated by its 5' untranslated region (UTR), while its 3' UTR plays role in transcript ...
Gene identification for the cblD defect of vitamin B12 metabolism. Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt ... and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this ... It is estimated that as many as 60% of cases are the result of a mutated MUT gene which encodes the protein methylmalonyl CoA ... The action of this enzyme can also be crippled by mutations in the MMAA, MMAB, and MMADHC genes, each of which encodes a ...
Deficiency of arginine and ornithine restricts the function of the urea cycle and leads to hyperammonemia after protein-rich ... and the screening of known mutations of the causative gene from a DNA sample. Treatment of LPI consists of protein-restricted ... Mental development is normal if prolonged episode of hyperammonemia can be avoided. Some patients develop severe pulmonary and ... a neutral amino acid that improves the function of the urea cycle and allows sufficient protein intake without hyperammonemia.[ ...
Gene. 532 (2): 302-6. doi:10.1016/j.gene.2013.08.036. PMID 23973720. González-Hernández, T; Barroso-Chinea, P; Acevedo, A; ... "Chronic hyperammonemia, glutamatergic neurotransmission and neurological alterations". Metabolic Brain Disease. 28 (2): 151-4. ...
Winkler, JK; Suttle, DP (July 1988). "Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria ... hyperammonemia and decreased BUN are seen because the urea cycle is not functioning properly, but megaloblastic anemia will not ... Orotic aciduria can be diagnosed through genetic sequencing of the UMPS gene. Treatment is administration of uridine ... "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria ...
Gene. 576 (1 Pt 2): 208-13. doi:10.1016/j.gene.2015.10.002. PMID 26449400. Ballhausen D, Mittaz L, Boulat O, Bonafé L, ... hyperammonemia, and pancytopenia in infancy, and may cause early death. Complications include cardiomyopathy, metabolic stroke ... The MUT gene lies on the chromosome location of 6p12.3 and consists of 13 exons, spanning over 35kb. The mature enzyme is a ... Mutations in MUT gene may lead to various types of methylmalonic aciduria. MCM was first identified in rat liver and sheep ...
... hyperammonemia). Deficiency can be caused by defects in the NAGS coding gene or by deficiencies in the precursors essential for ... In Rhizobium, extracellular build-up of N-acetylglutamic acid is due to metabolism involving nod factor genes on a symbiotic ...
... due to glutamate dehydrogenase 1 gene. Can cause mental retardation and epilepsy in severe cases. Gastric dumping syndrome ( ... due to several congenital disorders of insulin secretion Insulin injected for type 1 diabetes Hyperinsulinism-hyperammonemia ... Hereditary ACTH resistance HMG-CoA lyase deficiency Hydroxymethylglutaryl-CoA lyase deficiency Hyperinsulinism-hyperammonemia ...
The TMEM70 gene has 4 exons and is located on the q arm of chromosome 8 in position 21.11 and spans 6,642 base pairs. The gene ... hyperammonaemia, psychomotor retardation, 3-methylglutaconic aciduria, failure to thrive, and severe muscular hypotonia. Also ... Genes and Immunity. 11 (3): 232-8. doi:10.1038/gene.2010.1. PMID 20237496. Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V ... Gene. 515 (1): 197-9. doi:10.1016/j.gene.2012.11.044. PMID 23235116. Houstek J, Kmoch S, Zeman J (May 2009). "TMEM70 protein - ...
CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul ... March 2014). "Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in ... "Entrez Gene: Carbonic anhydrase 5A". Retrieved 2019-12-31. Vullo D, Nishimori I, Innocenti A, Scozzafava A, Supuran CT (March ... Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene. Carbonic anhydrases (CAs) are a ...
... gene sharing'. The same gene product functions as both a lens crystallin and an enzyme in other non-ocular tissues. Comparative ... Ammonia builds to toxic levels, resulting in hyperammonemia. Ammonia is toxic in part because it affects the nervous system. ... The ASL gene is located on chromosome 7 between the centromere (junction of the long and short arm) and the long (q) arm at ... Multiple copies of a polypeptide encoded by a gene often can form an aggregate referred to as a multimer. When a multimer is ...
Each of these four subunits is encoded by a separate gene. Defects in three of these four genes have been linked to glycine ... or hyperammonaemia and no other organ affected). Pronounced and sustained hiccups in an encephalopathic infant have been ... It is thought that these patients may have mutations in the genes encoding one of the cofactors associated with the GCS complex ... A small percentage of affected individuals do not have detectable mutations in any of the three genes (listed above) that are ...
Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene ... Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene ...
of the gene sequences.. In most cases, only the indicated exons and roughly 20 bp of flanking non-coding sequence on each side ... Clinical symptoms of hyperammonemia due to OTC deficiency (OMIM 311250) can appear in the neonatal period in patients with ... Hyperammonemia due to ornithine transcarbamylase (OTC) deficiency is an X linked recessive disorder. Although most patients are ... Test reports contain little or no information about other portions of the gene, including many regulatory regions.. In nearly ...
Genes included in a Genomics England gene panel for a rare disease category (green list) should fit the criteria A-E outlined ... Gene classified by Genomics England curator. Sarah Leigh (Genomics England Curator) This gene has been classified as Green List ... A variant on one allele of this gene can cause the disease, however a variant on both alleles of this gene can result in a more ... Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were ...
Genes included in a Genomics England gene panel for a rare disease category (green list) should fit the criteria A-E outlined ... Gene classified by Genomics England curator. Sarah Leigh (Genomics England Curator) This gene has been classified as Green List ... Gene classified by Genomics England curator. Sarah Leigh (Genomics England Curator) This gene has been classified as Green List ... A variant on one allele of this gene can cause the disease, however a variant on both alleles of this gene can result in a more ...
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: A new inborn error caused by a mutationin in the gene ... Hyperammonemia with reduced ornithine, citrulline, arginine and proline: A new inborn error caused by a mutationin in the gene ... Hyperammonemia with reduced ornithine, citrulline, arginine and proline : A new inborn error caused by a mutationin in the gene ... Hyperammonemia with reduced ornithine, citrulline, arginine and proline : A new inborn error caused by a mutationin in the gene ...
Both brothers were found to carry homozygous mutations in the SLC25A15 gene. ... Dietary restriction of protein is the basic treatment, with supporting therapy to prevent and control the hyperammonemia. ... She was found to have hyperammonemia, elevated liver enzymes, elevated partial thromboplastin time, increased serum levels of ... Affected neonates may develop symptoms related to hyperammonemia within 24-48 hours of birth, including poor feeding, vomiting ...
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ... Mutations in the SLC25A15 gene cause ornithine translocase deficiency. The SLC25A15 gene provides instructions for making a ... which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive ... Mutations in the SLC25A15 gene cause the production of a mitochondrial ornithine transporter 1 with reduced or absent function ...
Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent ... Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized ... The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This ... Congenital hyperammonemia, type I. MedGen: C0751753OMIM: 237300GeneReviews: Urea Cycle Disorders Overview ...
It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fift … ... Keywords: CA5A gene; carbonic anhydrase VA deficiency; hyperammonemia; metabolic acidosis. Publication types * Case Reports ... It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with ...
R. R. Kapoor, S. E. Flanagan, P. Fulton et al., "Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene ... D. Ninkovic, V. Sarnavka, A. Basnec et al., "Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in ... "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene," The New England ... a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation," Chinese ...
"Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene". Human Genetics. ... The human OTC gene is located on the short arm of chromosome X (Xp21.1). The gene is located in the Watson (plus) strand and is ... 149 of these mutations are known to cause onset of hyperammonemia during the first weeks of life. 70 manifest as hyperammonemia ... Accumulation of ammonia in the blood is known as hyperammonemia. As ammonia, though toxic, is a nitrogen source for the body, ...
The gene has the highest expression in the liver and kidney, but is also expressed in almost every human tissue. Overexpression ... Some such substrates are linked to diseases or conditions such as hyperammonemia. A list of some of the substrates that omega- ... of the NIT2 gene results in decreasing cell proliferation and growth in HeLa cells, which indicates that the gene may have a ... amidase catalyzes may be found in Table 1. The NIT2 gene in humans has been found to be identical to omega-amidase. ...
Complete information for SLC25A15 gene (Protein Coding), Solute Carrier Family 25 Member 15, including: function, proteins, ... Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of ... Evolution for SLC25A15 Gene. ENSEMBL:. Gene Tree for SLC25A15 (if available). TreeFam:. Gene Tree for SLC25A15 (if available). ... Entrez Gene Summary for SLC25A15 Gene. * This gene is a member of the mitochondrial carrier family. The encoded protein ...
Complete information for SLC25A2 gene (Protein Coding), Solute Carrier Family 25 Member 2, including: function, proteins, ... Diseases associated with SLC25A2 include Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome. Among its related ... No data available for DME Specific Peptides for SLC25A2 Gene Domains & Families for SLC25A2 Gene Gene Families for SLC25A2 Gene ... Summaries for SLC25A2 Gene Entrez Gene Summary for SLC25A2 Gene. * This intronless gene encodes a protein that localizes to the ...
Therefore, ammonia metabolism genes may link a range of diseases involving glutamate signaling... ... Fisman M, Gordon B, Feleki V, Helmes E, Appell J, Rabheru K (1985) Hyperammonemia in Alzheimers disease. Am J Psychiatry 142(1 ... two SNPs in the GLS gene were associated with T2D, and one SNP in the GLUL gene and three SNPs in the CPS1 gene were associated ... Therefore, ammonia metabolism genes may link a range of diseases involving glutamate signaling such as Alzheimers disease (AD ...
Noninfant children with these gene defects also have asymptomatic hyperammonemia.. Genetic defects in the enzyme short-chain L- ... The former is encoded by the ABCC8 gene, and the latter by the KCNJ11 gene. [3] ... Activating defects of the GCK gene for the enzyme glucokinase, which serves as the primary glucose sensor in the β cell, are ... Defects in GLUD1, which encodes the enzyme glutamate dehydrogenase, are usually associated with asymptomatic hyperammonemia and ...
... syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine ... Hyperammonemia / genetics, metabolism, physiopathology. Magnetic Resonance Imaging. Male. Mutation / genetics. Ornithine / ... Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ... Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and ...
Hyperammonemia: regulation of argininosuccinate synthetase and argininosuccinate lyase genes in aggregating cell cultures of ... Structure of the rat argininosuccinate lyase gene: close similarity to chicken delta-crystallin genes. Matsubasa, T., Takiguchi ... Hyperammonemia: regulation of argininosuccinate synthetase and argininosuccinate lyase genes in aggregating cell cultures of ... The regulation of AS and AL genes during hyperammonemia is unknown in the brain [2]. ...
Rodrigo R, Cauli O, Gomez-Pinedo U, Agusti A, Hernandez-Rabaza V, Garcia-Verdugo JM, et al. Hyperammonemia induces ... Gene expression profiling in the cerebral cortex of patients with cirrhosis with and without hepatic encephalopathy†‡. ... Genome wide profiling of altered gene expression in the neocortex of Alzheimers disease. J Neurosci Res 2010; 88: 1157-1169.. ... Current status and future directions of gene expression profiling in Parkinsons disease. Neurobiol Dis 2012; 45: 76-82.. * ...
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. Gene ... Engineering the gut microbiota to treat hyperammonemia. The Journal of clinical investigation 125(7): 2841-50, Jul 2015.. Hu C ...
Over 90% of patients with classical RTT have mutations in the X-linked methyl-CpG-binding (MECP2) gene, while other genes, ... whilst other genes, including cyclin-dependent kinase-like 5 (CDKL5), Forkhead box protein G1 (FOXG1), Myocyte-specific ... and emphasize the need for the use of this technology to identify known and new disease genes in RTT patients. ... and emphasize the need for the use of this technology to identify known and new disease genes in RTT patients. ...
Classical urea cycle defects are caused by pathogenic variants in the ARG1, ASL, ASS1, CPS1, NAGS or OTC genes. These genes all ... The various conditions that cause hyperammonemia can be classified as either primary or secondary hyperammonemias. Primary ... 2010; Rabier 2016). Hyperammonemia can lead to irreversible brain damage, coma and death if not identified and treated rapidly ... Secondary hyperammonemias occur when the urea cycle is inhibited due to substrate deficiencies or the accumulation of ...
... caused by a mutation in the gene PCCA encoding propionyl-CoA on 13q or PCCB on 3q; the clinical features are episodic vomiting ... and lethargy with hyperammonemia, hyperglycinemia, and ketoacidosis; death may occur following seizures and coma. ...
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998 ... Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. ... Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007 Apr. 4 ... Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995. 268 ...
Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of ... Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ... Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc ... Gene Ontology Classifications Symbol. Name. ID Slc25a15 solute carrier family 25 (mitochondrial carrier ornithine transporter ...
The Arabidopsis nuclear gene BASIC AMINO ACID CARRIER 2 (BAC2) encodes a mitochondria-located carrier that transports basic ... The expression of genes encoding stress-related transcription factors, arginine metabolism enzymes, and transporters is ... The expression of genes encoding stress-related transcription factors, arginine metabolism enzymes, and transporters is ... The Arabidopsis nuclear gene BASIC AMINO ACID CARRIER 2 (BAC2) encodes a mitochondria-located carrier that transports basic ...
Hyperammonemia in gene-targeted mice lacking functional hepatic glutamine synthetase.. Proc Natl Acad Sci U S A. 2015. Fatty ... Hyperammonemia in gene-targeted mice lacking functional hepatic glutamine synthetase.. Proc Natl Acad Sci U S A. 2015. Li LC, ... Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.. Brain. 2012. Permissive Locus HPRT Knockin ... Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.. Brain. 2012. Lafora Disease:. Duran J, Tevy ...
HYPERAMMONEMIA DUE TO (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN mitochondrion (ortholog) ... Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene ... Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner ... Gene Ontology Annotations. Cellular Component. Term. Qualifier. Evidence. With. Reference. Notes. Source. Original Reference(s) ...
RT22_HUMAN] Hypotonia with lactic acidemia and hyperammonemia. The disease is caused by mutations affecting the gene ... RT16_HUMAN] Combined oxidative phosphorylation defect type 2. The disease is caused by mutations affecting the gene represented ... RM03_HUMAN] Combined oxidative phosphorylation defect type 9. The disease is caused by mutations affecting the gene represented ... The disease is caused by mutations affecting the gene represented in this entry. ...
... and the OTC gene mutation. UCD should be considered for patients with hyperammonemia without severe liver function ... Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency. Yudai Koya, Michihiko Shibata, Michio Senju, ... A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia ... Anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibody is associated with rapidly progressive interstitial lung ...
  • Tuchman ( Hum Mut 2:174-178, 1993) reported that approximately 10 to 15% of all mutations associated with OTC deficiency were large deletions involving all or part of the OTC gene. (preventiongenetics.com)
  • i)Plausible disease-causing mutations: Recurrent de novo mutations convincingly affecting gene function. (genomicsengland.co.uk)
  • Mutations in the SLC25A15 gene cause ornithine translocase deficiency. (medlineplus.gov)
  • Mutations in the SLC25A15 gene cause the production of a mitochondrial ornithine transporter 1 with reduced or absent function. (medlineplus.gov)
  • which means both copies of the gene in each cell have mutations. (medlineplus.gov)
  • Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation. (nih.gov)
  • Both brothers were found to carry homozygous mutations in the SLC25A15 gene. (cags.org.ae)
  • To characterize the genotype and phenotype of Chinese patients with congenital hyperinsulinism (CHI) caused by activating mutations in GLUD1 , the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH). (hindawi.com)
  • The clinical data of glutamate dehydrogenase hyperinsulinism (GDH-HI) patients were reviewed, and gene mutations were confirmed by whole exome sequencing (WES) and Sanger DNA sequencing. (hindawi.com)
  • 3 ] reported mutations in the GLUD1 gene as the cause of this disorder in 1998. (hindawi.com)
  • Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (genecards.org)
  • 149 of these mutations are known to cause onset of hyperammonemia during the first weeks of life. (wikipedia.org)
  • Mutations in the OTC gene can cause Ornithine Transcarbamylase deficiency. (wikipedia.org)
  • Over 90% of patients with classical RTT have mutations in the X-linked methyl-CpG-binding ( MECP2 ) gene, while other genes, including cyclin-dependent kinase-like 5 ( CDKL5 ), Forkhead box protein G1 ( FOXG1 ), myocyte-specific enhancer factor 2C ( MEF2C ), and transcription factor 4 ( TCF4 ), have been associated with phenotypes overlapping with RTT. (frontiersin.org)
  • In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies, making whole-exome and even whole-genome sequencing possible strategies for the detection of rare and de novo mutations, aiding the discovery of novel disease genes. (frontiersin.org)
  • In most cases, RTT is caused by de novo mutations in the X-linked methyl-CpG-binding ( MECP2 ) gene ( Christodoulou and Weaving, 2003 ), resulting in the disruption of the molecular functions of MeCP2. (frontiersin.org)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. (biomedsearch.com)
  • The disease is caused by mutations affecting the gene represented in this entry. (proteopedia.org)
  • Carboxyl-ester lipase (CEL) maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes and pancreatic exocrine dysfunction due to mutations in the CEL gene encoding CEL. (diabetesjournals.org)
  • OMIM 609812) caused by mutations in the CEL gene, CEL ( 3 ). (diabetesjournals.org)
  • Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (thefreedictionary.com)
  • Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (nih.gov)
  • Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. (nih.gov)
  • DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner. (malacards.org)
  • approach that is independent of specific genes and mutations. (stanford.edu)
  • Understanding functional consequences of gene mutations in single case/family first and then validating the molecular and cellular defects in other patients with similar phenotypes, will anticipate and complement cellular and gene therapy strategies. (stanford.edu)
  • Among the 12 infants who underwent genetic evaluation, 4 (33%) had mutations in ABCC8 gene. (pediatriconcall.com)
  • Gene mutations play a pivotal role in their etiology. (pediatriconcall.com)
  • Mutations in these genes cause different types of congenital myopathy. (childrenshospital.org)
  • Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (childrenshospital.org)
  • Heterogeneity of nemaline myopathy cases with skeletal muscle -actin gene mutations. (childrenshospital.org)
  • The action of this enzyme can also be crippled by mutations in the MMAA, MMAB, and MMADHC genes, each of which encodes a protein required for normal functioning of methylmalonyl CoA mutase. (wikipedia.org)
  • Mutations in the MCEE gene, which encodes the methylmalonyl CoA epimerase protein, also referred to as methylmalonyl racemase, will cause a much more mild form of the disorder than the related methymalonyl CoA mutase variant. (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. (renalandurologynews.com)
  • Over 16 mutations have been described in the ASL gene. (renalandurologynews.com)
  • Elevations of citrulline are also seen in CIT2 due to citrin deficiency from mutations in the gene, SLC25A13 . (clinicaladvisor.com)
  • The term 'variable expressivity' is not helpful with regard to autosomal recessive disorders when variable phenotypes are explained by different mutations in the respective gene. (springer.com)
  • Mutations in MCF genes are associated with rare genetic diseases underscoring the relevance of individual MCF members. (els.net)
  • lysinuric protein intolerance is caused by mutations in the slc7a7 gene. (malacards.org)
  • Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. (proteopedia.org)
  • Under Dr. Stanley's mentorship, researchers were able to identify specific mutations in GLUD1, the gene that causes the hyperinsulinism/hyperammonemia (HI/HA) syndrome. (chop.edu)
  • However, an editing vector able to correct one mutation would not be applicable for patients carrying different OTC mutations, plus expression would not be fast enough to treat a hyperammonemia crisis. (sciencemag.org)
  • More than 40 NAGS gene mutations have been identified in people with N-acetylglutamate synthase deficiency, which is characterized by abnormally high levels of ammonia in the blood. (nih.gov)
  • Most NAGS gene mutations that cause N-acetylglutamate synthase deficiency change single protein building blocks (amino acids) in the N-acetylglutamate synthase enzyme. (nih.gov)
  • Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. (nih.gov)
  • Mutations in this gene (PC) have been associated with pyruvate carboxylase deficiency. (uhhospitals.org)
  • This is a comprehensive report of all 87 mutations found to date in the ASS1 gene on chromosome 9q34.1. (uzh.ch)
  • This update presents a survey of the correlation between mutations in the ASS1 gene and the respective clinical courses as described so far. (uzh.ch)
  • Mutations in this gene lead to hyperammonemia , hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration , cataracts and connective tissue diseases . (wikidoc.org)
  • [7] Therefore, a lack of P5CS, due to mutations in the ALDH18A1 gene, often leads to neurodegeneration, joint laxity , skin hyperelasticity , bilateral sub capsular cataracts, and a plethora of other complications associated with impaired proline and ornithine synthesis. (wikidoc.org)
  • The CACT deficiency is caused by mutations in the SLC25A20 gene . (nih.gov)
  • Mutations in the ''PC'' gene cause pyruvate carboxylase deficiency. (wikidoc.org)
  • Mutations in the ''PC'' gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. (wikidoc.org)
  • Clinical symptoms of hyperammonemia due to OTC deficiency (OMIM 311250) can appear in the neonatal period in patients with significant enzyme deficiency, or as late as adulthood in individuals with partial enzyme deficiency (Finkelstein et al. (preventiongenetics.com)
  • Hyperammonemia due to ornithine transcarbamylase (OTC) deficiency is an X linked recessive disorder. (preventiongenetics.com)
  • It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. (nih.gov)
  • An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Citrate cycle (TCA cycle) . (malacards.org)
  • Genetic causes of secondary hyperammonemias can include the organic acidemias (primarily methylmalonic acidemia, propionic acidemia, and isovaleric acidemia), lysinuric protein intolerance, pyrroline-5-carboxylate synthetase deficiency, glutamine synthase deficiency, disorders that cause a decrease in the availability of acetyl-CoA (such as fatty acid oxidation defects), and defects in the carnitine cycle (Häberle 2013). (preventiongenetics.com)
  • Individuals with CPS1 deficiency exhibit symptoms similar to other urea cycle disorders with hyperammonemia. (oncologynurseadvisor.com)
  • The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (renalandurologynews.com)
  • Citrin deficiency may present in adults with acute episodes of hyperammonemia and neurological symptoms as seen in other urea cycle disorders along with fatty liver infiltration and fibrosis. (clinicaladvisor.com)
  • The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. (ugent.be)
  • Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. (ugent.be)
  • Deficiency of these genes is linked to hyperinsulinism/hyperammonemia syndrome in humans. (openwetware.org)
  • GDH2 is homologous to GLUD1 and GLUD2, both of which have a deficiency linked to hyperinsulinism/hyperammonemia syndrome in humans. (openwetware.org)
  • Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A. A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern. (proteopedia.org)
  • What disease does a deficiency of this gene cause in humans? (openwetware.org)
  • Induction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery. (edu.au)
  • Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. (genetex.com)
  • Although a promising treatment for late-onset OTC deficiency, adeno-associated virus (AAV) neonatal gene therapy would only provide short-term therapeutic effects as the non-integrated genome gets lost during hepatocyte proliferation. (sciencemag.org)
  • This CRISPR-Cas9 gene-targeting approach may be applicable to all patients with OTC deficiency, irrespective of mutation and/or clinical state. (sciencemag.org)
  • For patients with suspected PC deficiency, PC gene sequence analysis is recommended as the first step in mutation identification. (uhhospitals.org)
  • Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5): A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. (nih.gov)
  • Definition: Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. (humpath.com)
  • Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype. (uzh.ch)
  • Unsuccessful trial of gene replacement in arginase deficiency, Z. Kinderheilk. (springer.com)
  • Jain-Ghai S, Nagamani SCS, Blaser S, Siriwardena K, Feigenbaum A. Arginase I Deficiency: Severe infantile presentation with hyperammonemia: more common than reported? (rarediseasesnetwork.org)
  • Partial or complete deficiency in the function of the affected enzyme or transporter results in hyperammonemia, which, if untreated, can cause severe brain damage and death. (invitae.com)
  • The urea cycle disorders are a group of inherited metabolic diseases that cause hyperammonemia and abnormal amino acid metabolism Typically, they are caused by a deficiency of one of the enzymes or transporter proteins that participate in the urea cycle. (invitae.com)
  • the severity depends on the gene that has been disrupted as well as on the extent of the functional deficiency of the resulting enzyme or transporter. (invitae.com)
  • [2] Most patients with CACT deficiency have a severe disease presenting within the first 48 hours of life as low blood sugar with ketonic bodies (hypoketotic hypoglycemia), high ammonia (hyperammonemia) levels in the blood, increased heart muscle ( cardiomyopathy ), and abnormal heart rhythm (arrhythmias), as well as skeletal muscle damage, liver problems, and low temperature (hypothermia). (nih.gov)
  • Children with the mild type of CACT deficiency usually start having symptoms before age three and present with episodes of hypoketotic hypoglycemia and hyperammonemia often brought on by fasting and/or by being sick. (nih.gov)
  • Deficiencies in these result in hyperinsulinism-hyperammonemia syndrome as well as other neurological disorders. (openwetware.org)
  • The proband significantly improved on protein restriction, sodium benzoate, and vitamin K. All affected members were found to carry a homozygous mutation in the ORNT1 gene. (cags.org.ae)
  • Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. (nih.gov)
  • Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. (nih.gov)
  • Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (nih.gov)
  • A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. (nih.gov)
  • Autosomal recessive inheritance means the individual has inherited two abnormal copies of the CPS1 gene, each gene containing a mutation. (oncologynurseadvisor.com)
  • Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (childrenshospital.org)
  • Mutation analysis of the ASL gene is performed on genomic DNA extracted from blood, buccal brushes and amniotic fluid fibroblast cultures. (renalandurologynews.com)
  • G mutation in the TMEM70 gene. (ugent.be)
  • Methods Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c. 317-2A -{\textrangle} G mutation in the TMEM70 gene. (ugent.be)
  • Somatic mosaicism for an OTC gene mutation is given as an example of an apparently heterozygous mutation pattern in a boy with an X-linked disease. (springer.com)
  • It has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (malacards.org)
  • Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. (proteopedia.org)
  • Cause of this neurological disorder is mutation of one single gene, the methyl-CpG-binding protein 2 ( MECP2 ) gene. (springermedizin.de)
  • A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (semanticscholar.org)
  • article{Eiken1992ADN, title={A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (semanticscholar.org)
  • We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. (semanticscholar.org)
  • This novel mutation, M1I, disrupts the start codon of the gene by a G to A transition. (semanticscholar.org)
  • A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein. (creativebiomart.net)
  • Etiology mutation in gene encoding carbamoyl phosphate synthetase I (CPS1) (MIM.608307). (humpath.com)
  • Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 ( OMIM ) is caused by mutation in the KCNJ11 gene ( OMIM ) on chromosome 11p15. (mendelian.co)
  • HHF3 ( OMIM ) is caused by mutation in the glucokinase gene ( GCK ) on chromosome 7p13. (mendelian.co)
  • HHF4 ( OMIM ) is caused by mutation in the HADH gene ( OMIM ) on chromosome 4q25. (mendelian.co)
  • HHF5 ( OMIM ) is caused by mutation in the insulin receptor gene ( INSR ) on chromosome 19p13. (mendelian.co)
  • HHF6 ( OMIM ) is caused by mutation in the GLUD1 gene ( OMIM ) on chromosome 10q23. (mendelian.co)
  • Since triplication of the APP gene in the context of trisomy 16 in the Ts65DN mice caused a 90 percent reduction in NGF transport and loss of BFCNs, the researchers checked transport in mice overexpressing the human APP gene, or the APP gene with the AD-causing Swedish mutation. (alzforum.org)
  • Additionally infants may have failure to thrive, hypoglycemia, and hemolytic anemia, but hyperammonemia is not commonly seen. (clinicaladvisor.com)
  • These JVS mice show symptoms such as fatty liver, hyperammonemia, hypoglycemia, cardiomegaly and skeletal muscle degeneration. (nii.ac.jp)
  • Defects in HADHB are a cause of a variety of diseases such as hypoglycemia, hyperammonemia, mild liver dysfunction and 3-hydroxydicarboxylic aciduria. (abcam.com)
  • Group B ("European", or severe infantile form) has a more complex biochemical phenotype, frequently presenting with hypoglycemia, lactic acidosis, ketosis, hyperammonemia, and elevated citrulline, as well as an intracellular redox disturbance. (uhhospitals.org)
  • The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. (nih.gov)
  • The gene encoding CEL is primarily expressed in pancreatic acinar cells and lactating mammary tissue and encodes a digestive enzyme with a role in cholesterol ester digestion ( 5 ). (diabetesjournals.org)
  • A gene is, in essence, a segment of DNA that has a particular purpose, i.e., that codes for (contains the chemical information necessary for the creation of) a specific enzyme or other protein. (pafoundation.com)
  • All enzyme deficiencies, except ARG, may present with acute hyperammonemia. (oncologynurseadvisor.com)
  • The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. (abnova.com)
  • Choose the one that shows all of the reactions we talked about in class and make sure you can relate it to your notes, matching the genes, enzyme names, and reactants/products. (openwetware.org)
  • The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. (genetex.com)
  • The NAGS gene provides instructions for making the enzyme N-acetylglutamate synthase. (nih.gov)
  • This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. (bio-rad.com)
  • The pyruvate carboxylase (PC) gene is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. (uhhospitals.org)
  • Delta-1-pyrroline-5-carboxylate synthetase ( P5CS ) is an enzyme that in humans is encoded by the ALDH18A1 gene . (wikidoc.org)
  • Diseases associated with SLC25A15 include Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome and Gyrate Atrophy Of Choroid And Retina . (genecards.org)
  • Diseases associated with SLC25A2 include Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome . (genecards.org)
  • lead to hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome which may be fatal. (frontiersin.org)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. (biomedsearch.com)
  • Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. (nih.gov)
  • Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. (nih.gov)
  • HIRA, a DiGeorge Syndrome Candidate Gene, Confers Proper Chromatin Accessibility on HSCs and Supports All Stages of Hematopoiesis. (genoway.com)
  • Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7. (semanticscholar.org)
  • Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis. (semanticscholar.org)
  • Down syndrome (DS) leads to early onset AD-like pathology that many researchers believe is caused by the increased dose of the APP gene, present on the triplicated chromosome 21. (alzforum.org)
  • The SLC25A15 gene provides instructions for making a protein called mitochondrial ornithine transporter 1. (medlineplus.gov)
  • SLC25A15 (Solute Carrier Family 25 Member 15) is a Protein Coding gene. (genecards.org)
  • An important paralog of this gene is SLC25A15 . (genecards.org)
  • publications in PubMed explicitly cited by the gene record in OMIM. (nih.gov)
  • All the information presented here about the ABCC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine . (mendelian.co)
  • Metabolic investigations showed hyperornithinemia, homocitrullinaria and hyperammonemia. (cags.org.ae)
  • Other disorders that may present with hyperammonemia include liver failure, drug toxicity, or inherited organic acidemia, such as propionic acidemia or methylmalonic acidemia, that also have severe metabolic acidosis. (oncologynurseadvisor.com)
  • In this role, he utilizes exome and genome sequencing technologies and genetic modeling to identify novel genes in babies born with undiagnosed and often fatal conditions, and studies rare neonatal conditions, such as esophageal atresia, interstitial lung disease and metabolic and mitochondrial diseases. (childrenshospital.org)
  • Metabolic changes associated with hyperammonemia in patients with propionic acidemia. (pafoundation.com)
  • 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. (renalandurologynews.com)
  • 12 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. (malacards.org)
  • He is also the Medical Director of the Gene Discovery Core, Manton Center of Orphan Disease Research based at Boston Children's and Director of Neonatal Genomics Program. (childrenshospital.org)
  • Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. (wikipedia.org)
  • The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. (proteopedia.org)
  • This disorder has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene-one from each parent-must be inherited to be affected by the disorder. (wikipedia.org)
  • The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder. (wikipedia.org)
  • Assuming autosomal recessive inheritance, we identified a locus on 11q with homozygosity mapping, with a multipoint logarithm of the odds score of 3.84, and sequenced two candidate genes. (molvis.org)
  • This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene in each cell are altered. (wikidoc.org)
  • Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. (wikidoc.org)
  • Accumulation of ammonia in the blood is known as hyperammonemia. (wikipedia.org)
  • Affected infants have severe lactic acidosis, a buildup of ammonia in the blood ([[hyperammonemia]]), and liver failure. (wikidoc.org)
  • Therefore, ammonia metabolism genes may link a range of diseases involving glutamate signaling such as Alzheimer's disease (AD), major depressive disorder (MDD), and type 2 diabetes (T2D). (springer.com)
  • The expression of genes encoding stress-related transcription factors (TF), arginine metabolism enzymes, and transporters is particularly disturbed in bac2-1 , and in control conditions, the bac2-1 transcriptome has some hallmarks of a wild-type stress transcriptome. (frontiersin.org)
  • Inborn errors of metabolism used to be regarded as simple monogenic traits, but a closer look at how different alleles of a gene determine different phenotypes shows that the molecular mechanisms in the individual case are often complicated. (springer.com)
  • Urea cycle disorders are a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia and hyperglutaminemia. (docme.ru)
  • See Targeted Genes and Methodology Details for Inborn Errors of Metabolism Custom Gene Panel in Special Instructions and Method Description for additional details. (mayocliniclabs.com)
  • It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurological manifestations. (biomedsearch.com)
  • Primary hyperammonemia is due to a dysfunction of the urea cycle that leads directly to the build-up of ammonia. (preventiongenetics.com)
  • Astrocyte dysfunction is a primary factor in hepatic encephalopathy (HE) impairing neuronal activity under hyperammonemia. (biologists.org)
  • Sodium valproate induced hyperammonemia without clinical hepatic dysfunction. (docme.ru)
  • RT22_HUMAN ] Hypotonia with lactic acidemia and hyperammonemia. (proteopedia.org)
  • 311250 ]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. (proteopedia.org)
  • Ornithine transcarbamylase is coded by exons 1-10 of the OTC gene on chromosome Xp11. (preventiongenetics.com)
  • This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. (genecards.org)
  • The human OTC gene is located on the short arm of chromosome X (Xp21.1). (wikipedia.org)
  • The ASL gene is located on chromosome 7 in the region 7cen-q11.2. (renalandurologynews.com)
  • The JVS gene was located on chromosome 11. (nii.ac.jp)
  • Gene Ontology (GO) annotations related to this gene include L-ornithine transmembrane transporter activity . (genecards.org)
  • a href='/help/gene_ontology' target='_top'>More. (uniprot.org)
  • Gene ontology: tool for the unification of biology. (springermedizin.de)
  • These genes all encode proteins that play direct roles in the urea cycle, and are only active in the liver (Häberle 2013). (preventiongenetics.com)
  • All nonsyndromic optic atrophies characterized to date result from defects in genes encoding mitochondria-related proteins. (molvis.org)
  • The Invitae Urea Cycle Disorders Panel analyzes up to 15 genes encoding the enzymes and transporter proteins involved in the urea cycle. (invitae.com)
  • These guidelines were developed as a combination of the ClinGen DEFINITIVE evidence for a causal role of the gene in the disease(a), and the Developmental Disorder Genotype-Phenotype (DDG2P) CONFIRMED DD Gene evidence level(b) (please see the original references provided below for full details). (genomicsengland.co.uk)
  • ii) Interpretable functional region: ORF in protein coding genes miRNA stem or loop. (genomicsengland.co.uk)
  • Another version of the mitochondrial ornithine transporter protein is produced by a different gene. (medlineplus.gov)
  • Dietary restriction of protein is the basic treatment, with supporting therapy to prevent and control the hyperammonemia. (cags.org.ae)
  • This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. (genecards.org)
  • It is estimated that as many as 60% of cases are the result of a mutated MUT gene which encodes the protein methylmalonyl CoA mutase. (wikipedia.org)
  • An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Response to elevated platelet cytosolic Ca2+ . (malacards.org)
  • The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. (abcam.com)
  • More recently, it has been shown that glutamine is also able to regulate gene expression (1) and mitogen-activated protein kinase activation (2). (scielo.br)
  • About 50% of neonates with severe hyperammonemia have seizures. (wikipedia.org)
  • These results suggest either that more severe deficits in transport are necessary to trigger neurodegeneration, or that other genes present on the triplicated region also play a part. (alzforum.org)
  • Mol Genet and Metab 96:97-105, 2009) found deletions in half of their patients with normal OTC gene sequencing results. (preventiongenetics.com)
  • Co‑expression of the carbamoyl‑phosphate synthase 1 gene and its long non‑coding RNA correlates with poor prognosis of patients with intrahepatic cholangiocarcinoma. (nih.gov)
  • 70 manifest as hyperammonemia in male patients later in life. (wikipedia.org)
  • Görg, B., Bidmon, H.-J. and Häussinger, D. (2013), Gene expression profiling in the cerebral cortex of patients with cirrhosis with and without hepatic encephalopathy. (wiley.com)
  • Here, we review the recent progress that is emerging in identifying pathogenic variations, specifically from exome sequencing in RTT patients, and emphasize the need for the use of this technology to identify known and new disease genes in RTT patients. (frontiersin.org)
  • Patients with hyperammonemia are good candidates for this test, especially if other external causes of hyperammonemia (such as infection or hepatic failure) have been ruled out. (preventiongenetics.com)
  • In four surviving patients, life-threatening hyperammonaemia occurred during childhood, triggered by acute gastroenteritis and prolonged fasting. (ugent.be)
  • Mc Guire PJ, Lee HS, Members of the UCDC, Summar ML. Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with Urea Cycle Disorders. (rarediseasesnetwork.org)
  • Two main aims of this work were: (1) to assess whether chronic hyperammonemia increases inflammatory factors in the hippocampus and if this is associated with microglia and/or astrocytes activation and (2) to assess whether hyperammonemia-induced neuroinflammation in the hippocampus is associated with altered membrane expression of glutamate and GABA receptors and spatial learning impairment. (biomedcentral.com)
  • The various conditions that cause hyperammonemia can be classified as either primary or secondary hyperammonemias. (preventiongenetics.com)
  • We discuss the possibility of a pathogenic role for CNTF and a protective role for beta-synuclein in experimental hyperammonemia. (nih.gov)
  • Competitive interrelationships between lysine and arginine in rat liver under normal conditions and in experimental hyperammonemia, Life Sci. (springer.com)
  • The Arabidopsis nuclear gene BASIC AMINO ACID CARRIER 2 ( BAC2 ) encodes a mitochondria-located carrier that transports basic amino acids in vitro . (frontiersin.org)
  • This gene encodes a subunit of mitochondrial ATP synthase. (nih.gov)
  • This gene encodes the delta subunit of the catalytic core. (nih.gov)
  • Urea cycle defects are characterized by (1) hyperammonemia, (2) encephalopathy, and (3) respiratory alkalosis. (preventiongenetics.com)
  • Urea acid cycle disorders are characterized by the triad of hyperammonemia, encephalopathy and respiratory alkalosis. (renalandurologynews.com)
  • The ASS1 gene provides instructions for making argininosuccinate synthase 1, which is responsible for the third step of the urea cycle. (thefreedictionary.com)
  • Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. (abnova.com)
  • The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children. (ugent.be)
  • How are genetic conditions and genes named? (nih.gov)
  • Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. (invitae.com)
  • One patient developed early-onset schizophrenia (DSM-IV criteria) with two acute psychotic episodes, the latest one following corticosteroids and sodium valproate intake, with major hyperammonemia. (ovid.com)
  • Symptoms in young children with hyperammonemia are non-specific: not willing to eat, problems with breathing, body temperature, seizures, unusual body movements (twitches) and somnolence. (wikipedia.org)
  • Classical urea cycle defects are caused by pathogenic variants in the ARG1, ASL, ASS1, CPS1, NAGS or OTC genes. (preventiongenetics.com)
  • The gene has the highest expression in the liver and kidney, but is also expressed in almost every human tissue. (wikipedia.org)
  • Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice. (genoway.com)
  • Glutamine stimulates argininosuccinate synthetase gene expression through O-glycosylation of Sp1 in Caco-2 cells. (thefreedictionary.com)
  • Hyperammonemia-induced neuroinflammation impairs glutamatergic and GABAergic neurotransmission by altering membrane expression of glutamate and GABA receptors, resulting in impaired spatial learning. (biomedcentral.com)
  • Other cell types and tissues exhibit an unmodified, functional gene expression. (genoway.com)
  • GDH2: Gene expression is regulated by the concentration of ammonia. (openwetware.org)
  • How is the expression of each of these genes regulated? (openwetware.org)
  • Publications] Uenaka, R.: 'Increased expression of carnitine palimitoyltransferase I gene is repressed by administering L-carnitine in the hearts of carnitine dificient juvenile visceral steatosis mice' J,Biochem.119. (nii.ac.jp)
  • Bio-Rad collaborated with Biogazelle, leaders in real-time PCR research, to design and experimentally validate PCR primers for gene expression assays across the human and mouse transcriptomes. (bio-rad.com)
  • The selected pathways were used to design panels of real-time PCR primers tailored for the top-ranked genes for differential gene expression analysis. (bio-rad.com)
  • Each gene target within a pathway was assigned a score based on the frequency of differential expression and its research significance. (bio-rad.com)
  • Reference genes are used in relative gene expression analysis to normalize for variation in the amount of input messenger RNA (mRNA) among samples. (bio-rad.com)
  • To ensure accurate quantitation, it is important to include one or more reference genes exhibiting constant expression levels under the experimental conditions. (bio-rad.com)
  • Dong S, Kojima T, Shiraiwa M, Mechin MC, Chavanas S, Serre G, Simon M, Kawada A, Takahara H: Regulation of the expression of peptidylarginine deiminase type II gene (PADI2) in human keratinocytes involves Sp1 and Sp3 transcription factors. (hmdb.ca)
  • We analyzed data from a National Institute on Aging study with a family-based design to determine if 45 single nucleotide polymorphisms (SNPs) in glutaminase ( GLS ), carbamoyl phosphate synthetase 1 ( CPS1 ), or glutamate-ammonia ligase ( GLUL ) genes were associated with AD, MDD, or T2D using PLINK software. (springer.com)
  • Of the SNPs that passed the quality control tests, four SNPs in the GLS gene were significantly associated with AD, two SNPs in the GLS gene were associated with T2D, and one SNP in the GLUL gene and three SNPs in the CPS1 gene were associated with MDD before Bonferroni correction. (springer.com)
  • Affected neonates may develop symptoms related to hyperammonemia within 24-48 hours of birth, including poor feeding, vomiting, lethargy, low temperature, and rapid breathing. (cags.org.ae)
  • Infants may present in the first few days of life with hyperammonemia with increasing lethargy, poor feeding, vomiting or irritability, and tachypnea similar to sepsis. (oncologynurseadvisor.com)
  • Elevations of glutamine and alanine may be seen in other disorders with hyperammonemia. (oncologynurseadvisor.com)
  • Hyperammonemia is seen in urea cycle disorders. (clinicaladvisor.com)
  • A lack of these genes may be linked to neurodegenerative disorders. (openwetware.org)
  • Deficiencies of all of the enzymes of the cycle have been described and although each specific disorder results in the accumulation of different precursors, hyperammonemia and hyperglutaminemia are common biochemical hallmarks of these disorders. (docme.ru)
  • The genes in this panel were selected based on the available evidence to date to provide Invitae's broadest test for urea cycle disorders. (invitae.com)
  • Depending on the affected gene(s), this disorder may present symptoms that range from mild to life-threatening. (wikipedia.org)
  • It is thougt that a single gene is responsible for all these symptoms. (nii.ac.jp)
  • Braissant O, Honegger P, Loup M, Iwase K, Takiguchi M, Bachmann C: Hyperammonemia: regulation of argininosuccinate synthetase and argininosuccinate lyase genes in aggregating cell cultures of fetal rat brain. (hmdb.ca)
  • He was also found to have hyperornithinemia in the absence of hyperammonemia. (cags.org.ae)
  • Some such substrates are linked to diseases or conditions such as hyperammonemia. (wikipedia.org)
  • Model-guided identification of a therapeutic strategy to reduce hyperammonemia in liver diseases. (ifado.de)
  • In combination with integrated bioinformatics analysis, this approach identified aberrant cellular responses, transcriptional pathways and genes that shed new light on immune dysregulation in sJIA. (stanford.edu)
  • The NIT2 gene in humans has been found to be identical to omega-amidase. (wikipedia.org)
  • Which of these genes has a homolog (similar gene related by descent) in humans? (openwetware.org)
  • Secondary hyperammonemias occur when the urea cycle is inhibited due to substrate deficiencies or the accumulation of metabolites that inhibit the action of one or more of the urea cycle enzymes (Häberle 2013). (preventiongenetics.com)
  • The results reported show that hyperammonemia induces astrocytes and microglia activation in the hippocampus, increasing pro-inflammatory cytokines IL-1β and IL-6. (biomedcentral.com)
  • Increased Occurrence of Valproic Acid-Induced Hyperammonemia in Carriers of T1405N Polymorphism in Carbamoyl Phosphate Synthetase 1 Gene," ISRN Neurology , vol. 2013, Article ID 261497, 4 pages, 2013. (hindawi.com)
  • [4] The ALDH18A1 gene spans 15 kb , is mapped on 10q24.3, and has an exon count of 18. (wikidoc.org)

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