Citrullinemia: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)Argininosuccinate Synthase: 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.CitrullineAmino Acid Metabolism, Inborn Errors: 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.Sodium Benzoate: 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.Hyperammonemia: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.Trypsin Inhibitor, Kazal Pancreatic: A pancreatic trypsin inhibitor common to all mammals. It is secreted with the zymogens into the pancreatic juice. It is a protein composed of 56 amino acid residues and is different in amino acid composition and physiological activity from the Kunitz bovine pancreatic trypsin inhibitor (APROTININ).Thyroxine-Binding Globulin: A thyroid hormone transport protein found in serum. It binds about 75% of circulating THYROXINE and 70% of circulating TRIIODOTHYRONINE.Ammonia: 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.Mitochondrial Membrane Transport Proteins: Proteins involved in the transport of specific substances across the membranes of the MITOCHONDRIA.Ligases: A class of enzymes that catalyze the formation of a bond between two substrate molecules, coupled with the hydrolysis of a pyrophosphate bond in ATP or a similar energy donor. (Dorland, 28th ed) EC 6.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dental Occlusion, Centric: Contact between opposing teeth during a person's habitual bite.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Patient-Centered Care: Design of patient care wherein institutional resources and personnel are organized around patients rather than around specialized departments. (From Hospitals 1993 Feb 5;67(3):14)Disabled Children: Children with mental or physical disabilities that interfere with usual activities of daily living and that may require accommodation or intervention.Urea Cycle Disorders, Inborn: 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.Ornithine Carbamoyltransferase Deficiency Disease: 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)Sulfite Oxidase: A MOLYBDENUM requiring enzyme that catalyzes the terminal reaction in the oxidative degradation of SULFUR AMINO ACIDS with the formation of a sulfate. A deficiency of sulfite oxidase results in sulfocysteinuria.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Cerebrospinal Fluid: A watery fluid that is continuously produced in the CHOROID PLEXUS and circulates around the surface of the BRAIN; SPINAL CORD; and in the CEREBRAL VENTRICLES.Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.Sulfite Reductase (Ferredoxin): A FERREDOXIN-dependent oxidoreductase that is primarily found in PLANTS where it plays an important role in the assimilation of SULFUR atoms for the production of CYSTEINE and METHIONINE.Oxidoreductases Acting on Sulfur Group Donors: Oxidoreductases with specificity for oxidation or reduction of SULFUR COMPOUNDS.Protein Disulfide Reductase (Glutathione): An enzyme that catalyzes the reduction of a protein-disulfide in the presence of glutathione, forming a protein-dithiol. Insulin is one of its substrates. EC 1.8.4.2.Protein-Energy Malnutrition: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.Hyperargininemia: 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)Kwashiorkor: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning "displaced child". Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)Hypothermia, Induced: Abnormally low BODY TEMPERATURE that is intentionally induced in warm-blooded animals by artificial means. In humans, mild or moderate hypothermia has been used to reduce tissue damages, particularly after cardiac or spinal cord injuries and during subsequent surgeries.Hepatic Encephalopathy: 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)Carbamoyl-Phosphate Synthase I Deficiency Disease: 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)Hypothermia: Lower than normal body temperature, especially in warm-blooded animals.Job Description: Statement of the position requirements, qualifications for the position, wage range, and any special conditions expected of the employee.Pediatrics: A medical specialty concerned with maintaining health and providing medical care to children from birth to adolescence.Sociometric Techniques: Methods for quantitatively assessing and measuring interpersonal and group relationships.Friends: Persons whom one knows, likes, and trusts.Peer Group: Group composed of associates of same species, approximately the same age, and usually of similar rank or social status.Occupational Exposure: The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.United StatesArgininosuccinic Acid: This amino acid is formed during the urea cycle from citrulline, aspartate and ATP. This reaction is catalyzed by argininosuccinic acid synthetase.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: 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.Speech-Language Pathology: The study of speech or language disorders and their diagnosis and correction.Arginine: An essential amino acid that is physiologically active in the L-form.Diet, Carbohydrate-Restricted: A diet that contains limited amounts of CARBOHYDRATES. This is in distinction to a regular DIET.Liver Transplantation: The transference of a part of or an entire liver from one human or animal to another.Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Education, Veterinary: Use for general articles concerning veterinary medical education.Neurology: A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.Internal Medicine: A medical specialty concerned with the diagnosis and treatment of diseases of the internal organ systems of adults.Schools, Veterinary: Educational institutions for individuals specializing in the field of veterinary medicine.Veterinary Drugs: Drugs used by veterinarians in the treatment of animal diseases. The veterinarian's pharmacological armamentarium is the counterpart of drugs treating human diseases, with dosage and administration adjusted to the size, weight, disease, and idiosyncrasies of the species. In the United States most drugs are subject to federal regulations with special reference to the safety of drugs and residues in edible animal products.

Type II citrullinemia in an elderly patient treated with living related partial liver transplantation. (1/41)

A 60-year-old woman was admitted to our hospital for repeated consciousness disturbance. Blood examination showed hyperammonemia, and plasma amino acid analysis revealed a marked increase in the citrulline level. To establish a diagnosis, a percutaneous needle biopsy of the liver was performed. The determination of the urea cycle enzyme activities revealed a selective marked decrease in argininosuccinate synthetase activity, indicating the final diagnosis of type II citrullinemia. The mean survival period of this disease after the appearance of symptoms has been reported as 26.4 months, and most conservative treatments are not effective. We performed a living related partial liver transplantation. Over the subsequent 13-month follow-up, the patient's condition has remained fairly good.  (+info)

Mutation analysis of Korean patients with citrullinemia. (2/41)

Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with citrullinemia, but Caucasian patients showed the extreme mutational heterogeneity. Although a limited number of Korean patients were studied, the IVS6-2A>G mutation appears to be one of the most frequent mutant alleles in Korean patients with citrullinemia. The Gly324Ser mutation identified in two patients also suggests the possible high frequency of this mutation in Korean patients as well.  (+info)

Reversibility of serum NH3 level in a case of sudden onset and rapidly progressive case of type 2 citrullinemia. (3/41)

A 48-year-old male presented with an acute change in mental status due to a marked elevation of plasma NH3 and was diagnosed with citrullinemia with amino acid analysis of blood. Hemodialysis and hemodiafiltration were performed, but serum chemical analysis did not show any improvement which led us to terminate dialysis following intensive care for 3 days. Surprisingly, NH3 level had decreased by 6 days after admission, coinciding with normalization of the size of the pupils. Since spontaneous remission had never been discussed, we discuss this relatively rare, but clinically significant entity with regard to its acute phase management and its potential reversibility.  (+info)

Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. (4/41)

Citrullinemia is an autosomal recessive disorder caused by the deficiency of argininosuccinate synthetase (AS). It is characterized by elevated levels of blood citrulline and ammonia, which often results in hyperammonemic coma and early neonatal death in affected children. We have explored the use of adenoviral vectors as a treatment modality in a murine model of citrullinemia, the Ass mouse. The Ass mouse has no endogenous AS activity due to a targeted interruption of the AS gene. Homozygous mutant animals develop high levels of blood citrulline, become hyperammonemic, and die within 24-48 h after birth. We demonstrated that the neonatal crisis in Ass mice can be ameliorated by the injection of a recombinant adenovirus carrying human AS cDNA (Ad.CMVhAS) within hours after birth. The average life span of the virus-treated animals was extended from 30 +/- 9.5 h to 16.1 +/- 1.6 days. A second viral infusion 14 days after the first dose further prolonged the life span to an average of 36.2 +/- 7.0 days, and to 40.7 +/- 3.3 days with a concurrent daily injection of arginine and sodium benzoate. Significantly increased liver AS activity (47.3 +/- 7.9% of normal) was detected 24 h after viral infusion, which reached peak levels (80-90% of normal) at day 7 and decreased to about 20% of normal within 2-3 weeks after viral infusion. Southern blot analysis of liver DNA revealed a transduction efficiency of about one viral genome per hepatocyte 7 days after viral infusion and a gradual decrease of viral genome per cell parallel to the loss of liver AS activity. Plasma glutamine levels were partially normalized in virus-treated animals and were completely normalized in animals receiving Ad.CMVhAS concurrently with alternative pathway therapy. Plasma arginine levels were also partially normalized. Together, these results demonstrated that the recombinant adenovirus was capable of conferring AS activity in the liver of the recipient animals within 24 h, and the neonatal crisis of hyperammonemia could be averted by acute treatment with the AS containing adenovirus.  (+info)

The first successful prenatal diagnosis on a Korean family with citrullinemia. (5/41)

DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene. They had a previous child with citrullinemia who died in the week after birth owing to complicated hyperammonemia. The lost child turned out to be a compound heterozygote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PCR and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was found to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. Pregnancy was continued and a healthy boy was born. Plasma amino acid analysis performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development.  (+info)

Localized proton MR spectroscopy in infants with urea cycle defect. (6/41)

SUMMARY: Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy, performed in two infants who had citrullinemia and ornithine transcarbamylase deficiency, respectively, showed a prominent increase of glutamine/glutamate and lipid/lactate complex in both cases. N-acetylaspartate, total creatine, and myo-inositol were decreased in the infant with citrullinemia. Proton MR spectroscopy provided useful information for the diagnosis and understanding of the pathophysiology of urea cycle enzyme defect.  (+info)

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (7/41)

The mitochondrial aspartate/glutamate carrier catalyzes an important step in both the urea cycle and the aspartate/malate NADH shuttle. Citrin and aralar1 are homologous proteins belonging to the mitochondrial carrier family with EF-hand Ca(2+)-binding motifs in their N-terminal domains. Both proteins and their C-terminal domains were overexpressed in Escherichia coli, reconstituted into liposomes and shown to catalyze the electrogenic exchange of aspartate for glutamate and a H(+). Overexpression of the carriers in transfected human cells increased the activity of the malate/aspartate NADH shuttle. These results demonstrate that citrin and aralar1 are isoforms of the hitherto unidentified aspartate/glutamate carrier and explain why mutations in citrin cause type II citrullinemia in humans. The activity of citrin and aralar1 as aspartate/glutamate exchangers was stimulated by Ca(2+) on the external side of the inner mitochondrial membrane, where the Ca(2+)-binding domains of these proteins are localized. These results show that the aspartate/glutamate carrier is regulated by Ca(2+) through a mechanism independent of Ca(2+) entry into mitochondria, and suggest a novel mechanism of Ca(2+) regulation of the aspartate/malate shuttle.  (+info)

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia. (8/41)

Citrullinaemia is an inborn error of metabolism resulting from a deficiency of argininosuccinate synthetase. Previous studies of RNA of argininosuccinate synthetase of citrullinaemia patients using S1 nuclease analysis have identified a class of so-called RNA-negative alleles in which no stable mRNA can be detected. To investigate the nature of mutation responsible for such a phenotype, a compound heterozygous citrullinaemia carrying an RNA-negative allele and an allele with a 3' splice site mutation in intron 6 (IVS6-2A>G) was analysed. Using sequences of a DNA polymorphism and the IVS6-2A>G mutation as markers, approximately equal amounts of pre-mRNAs from allelic genes were detected suggesting that RNA-negative phenotype could not be the result of defect in transcription initiation. A C-to-T transition converting the CGA arginine codon at residue 279 to a TGA termination codon (R279X) was identified by cDNA sequencing. No accumulation of partially spliced pre-mRNAs containing introns immediately upstream and downstream of the nonsense mutation was observed. In addition, no mRNA species of abnormal size was detected when cDNA from the RNA-negative allele was analysed. Hence, there is no indication of nonsense-associated altered splicing (NAS). The most likely event responsible for the RNA-negative phenotype appears to be nonsense-mediated mRNA decay (NMD).  (+info)

We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case successfully treated with p.o. administration of sodium pyruvate and low-carbohydrate diet. Although recent advances in liver transplantation have enabled successful treatment of patients with CTLN2, several issues concerning liver transplantation remain. Further, there is still an urgent need for therapies that do not rely on liver transplantation. The first case was a 41-year-old man who developed impaired consciousness in 1992. The patient was treated with conventional therapy for hepatic encephalopathy and died of severe brain edema. The second case was a 31-year-old man who suddenly presented a syncope-like attack with hyperammonemia. He was treated with carbohydrate-restricted diet but the encephalopathy could not be controlled, and he received emergency living donor liver transplantation. The third patient was a 67-year-old man who developed abnormal behavior with hyperammonemia.
... is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and p …
Citrullinemia definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!
Additional file 1: of Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
... (CIT II) is a rare genetic condition. CIT II results from a mutation (error) in ones DNA. Due to this mistake, people with CIT II are unable to produce an important enzyme, citrin. The function of citrin is to move substances within a cell. Enzymes are special proteins that help break down food into pieces. Once the food is broken down it is used as energy to make other proteins the body needs. People without citrin may not break down citrulline, which is a building block found in many proteins we eat. These substances are important for breaking down sugars, making proteins, and for the normal function of the liver. Those affected by CIT II typically develop symptoms in infancy, adolescence, or adulthood. Symptoms include yellowish skin and eyes (jaundice), low birth weight, confusion, restlessness, memory loss, low blood sugar, and abnormal behaviors.. CIT II is inherited in an autosomal recessive pattern. Meaning, the child must inherit two copies of the non-working gene ...
Citrin is the liver-type mitochondrial aspartate glutamate carrier. Its deficiency, also known as type II citrullinemia, is an autosomal recessive genetic disorder causing metabolic derangements in aerobic glycolysis and gluconeogenesis. Urea cycle mechanisms, uridine diphosphate-galactose epimerase activity, acylcarnitine metabolism, and fatty acid synthesis and utilization are also affected mainly due to a defective aspartate export from the mitochondria to the cytosol and impairment of the malate-aspartate shuttle. Patients with this defect may harbor different mutations on gene SLC25A13 located on chromosome 7q21.3. Mutations have a carrier rate of 1:65 in Japan and China, whereas they are much less frequent in the Western world, and are responsible for 2 phenotypes of the disease. The first is a usually self-limiting neonatal (intrahepatic) cholestatic and steatotic condition (neonatal intrahepatic cholestasis caused by citrin deficiency [NICCD], OMIM #605814). The second is an adult-onset ...
The mitochondrial aspartate/glutamate carrier catalyzes an important step in both the urea cycle and the aspartate/malate NADH shuttle. Citrin and aralar1 are homologous proteins belonging to the mitochondrial carrier family with EF-hand Ca(2+)-binding motifs in their N-terminal domains. Both proteins and their C-terminal domains were overexpressed in Escherichia coli, reconstituted into liposomes and shown to catalyze the electrogenic exchange of aspartate for glutamate and a H(+). Overexpression of the carriers in transfected human cells increased the activity of the malate/aspartate NADH shuttle. These results demonstrate that citrin and aralar1 are isoforms of the hitherto unidentified aspartate/glutamate carrier and explain why mutations in citrin cause type II citrullinemia in humans. The activity of citrin and aralar1 as aspartate/glutamate exchangers was stimulated by Ca(2+) on the external side of the inner mitochondrial membrane, where the Ca(2+)-binding domains of these proteins are ...
Abbreviations: ACE2, angiotensin-converting enzyme 2; AdiC, arginine/agmatine antiporter; AGC, aspartate/glutamate carrier; AMPK, AMP-dependent kinase; Apc, amino acid, polyamine and organocation; ASC, preference for alanine, serine and cysteine; ASCT, neutral amino acid transporter; ASS, argininosuccinate synthetase; B0AT, broad neutral (0) amino acid transporter; CTNL2, type 2 citrullinaemia; EA, episodic ataxia 1; EAAT, excitatory amino acid transporter; EEG, electroencephalogram; 4F2hc4F2, cell-surface-antigen heavy chain; GABA, γ-aminobutyric acid; GC1, mitochondrial glutamate carrier 1; HAT, heteromeric amino acid transporter; HHH, hyperammonaemia-hyperornithinaemia-homocitrullinuria; IL1, intracellular loop 1; LeuT, leucine transporter; LeuTAa, LeuT from Aquifex aeolicus; LPI, lysinuric protein intolerance; MCT, monocarboxylate transporter; MeAIB, N-methylaminoisobutyric acid; mTOR, mammalian target of rapamycin; NICCD, neonatal intrahepatic cholestasis caused by citrin deficiency; OCD, ...
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.[1] Since the substances also accumulate in the urine, the disorder can also be called citrullinuria. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different…
Information, Tools, and Resources to aid Primary Care Physicians in caring for Children with Special Health Care Needs (CSHCN) and providing a Medical Home for all of their patients.
PMID 12424587] Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. ...
Background SLC25A12 a susceptibility gene for autism spectrum disorders (ASDs) that is mutated in a neurodevelopmental syndrome encodes a MS-275 mitochondrial aspartate/glutamate carrier (AGC1). reduction in myelin basic protein (MBP)-positive fibers consistent with a previous report. Furthermore the neocortex of knockout mice contained abnormal neurofilamentous accumulations in neurons suggesting defective axonal transport and/or neurodegeneration. Slice cultures prepared from knockout mice also showed a myelination defect and reduction of Slc25a12 in rat primary oligodendrocytes led to a cellautonomous reduction in MBP expression. Myelin deficits in slice cultures from knockout mice could be reversed by administration of pyruvate indicating that reduction in AGC1 activity leads to reduced production of aspartate/(solute carrier family 25 member 12) is a gene on chromosome 2q31 that was identified as an autism susceptibility gene through both linkage and association studies (3). Recently ...
Most of the people with diabetes that I see have the adult-onset type 2, which typically develops after age 40. While there are certainly genetic predispositions to this condition, in the Western world, it is the great lifestyle disease. Conventional medical treatment for this condition is certainly very good, and someone with well-controlled adult-onset diabetes can expect a perfectly normal life span. But how do we avoid getting to this place? The story that I have created (and I have no idea whether ...
Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). 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. This is a comprehensive report of all 87 mutations found to date in the ASS1 gene on chromosome 9q34.1. A large proportion of the mutations (n=27) are described here for the first time. Mutations are distributed throughout exons 3 to 15, most of them being identified in exons 5, 12, 13, and 14. The mutation G390R in exon 15 is the single most common mutation in patients with the classical phenotype. Certain mutations clearly link to specific clinical courses but the clinical phenotype cannot be anticipated in all patients. This update presents a survey of the correlation between mutations in the ASS1 gene and the respective clinical courses as ...
Lee, Hencher H.C., Esther S.C. Wong, Albert Y.W. Chan, and Martin M.F. Choi. "Development of a galactose biosensor with galactose oxidase-immobilized epidermis of Solanum lycopersicum: Potential point-of-care testing for citrin deficiency in high-prevalence areas." Clinica Chimica Acta 412.4-3 (2011): 391-392. ...
ASS Cardio Spirig is a medicine available in a number of countries worldwide. A list of US medications equivalent to ASS Cardio Spirig is available on the Drugs.com website.
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Swiss drugmakers Roche and Novartis have provided financial backing French gene therapy start-up Vivet Therapeutics, with the latter raising EUR37.5 million (US$41 million) in an initial financing round.. The funds will be used by Vivet to advance a diversified pipeline of gene therapy programs targeting rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), progressive familial intrahepatic cholestasis type 3 (PFIC3) and citrullinemia type I.. Vivet, created last year in Paris with a wholly owned subsidiary in Spain, is focused on developing novel gene therapies for rare, inherited metabolic diseases.. Its lead program VTX801, which is expected to enter clinical testing by the end of 2018, targets a condition called Wilson Disease.. This rare genetic disorder is caused by a defective gene in liver cells encoding the ATP7B protein, which reduces the livers ability to regulate copper levels in the liver and other tissues ...
Principal Investigator:DOHI Kiyohiko, Project Period (FY):1992 - 1994, Research Category:Grant-in-Aid for General Scientific Research (B), Research Field:Agro-economics
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
To prevent hyperammonemia a diet rich in protein and lipids and low in carbohydrates is recommended. Diet composition consultation and a medical genetics consultation are recommended. However, the effectiveness of dietary treatment prior to the onset of symptoms of CTLN2 is unknown ...
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It affects males and females equally. The most common form, Adult Onset Pernicious Anemia, affects people after the age of 35 years. Studies suggest that about 1% of the elderly population is affected. Congenital Pernicious Anemia is very rare and has an onset of age between 4 and 28 months. Juvenile Pernicious Anemia has symptoms similar to the adult-onset type, seems to occur between the ages of 4 and 20 years. North America and in Europe among people of Scandinavian, English, or Irish descent has the higher prevalence. It is extremely rare among Asians. Approximately 1.9% of cases may go undiagnosed. Pernicious anemia shows a 10-fold increase in patients with multiple myeloma and a 250-fold increase in adults with immunoglobulin deficiency. ...
Complete information for ASS1P14 gene (Pseudogene), Argininosuccinate Synthetase 1 Pseudogene 14, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for ASS1P12 gene (Pseudogene), Argininosuccinate Synthetase 1 Pseudogene 12, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
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1KH2: Crystal structure of argininosuccinate synthetase from Thermus thermophilus HB8. Structural basis for the catalytic action.
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まずは,優れたと言う私がしたいと私がしたいブログ!私は簡単な質問を持っていた心,私はあなたがいないをすればそうでない場合は、聞きしたいのですが、その。 あなたの心に頭をあなた自身とクリアを中央にどのように 見つけるために知っている前書き込み私がいた。 私が持っているいた苦労,私の考え得ることに私のクリア思考の心を出。 失われた無駄な 私は本当にない,書き込みそれはでの喜びを取る楽しむ通常、ちょうど最初の10〜15分のように思えるちょうど開始する方法を把握しよう。どれ提案またはヒント? 感謝を ...
I started this thread to find what drives us all. Granted I started it here in YMAS because I figured it would draw alot of asinine comments. But really what is it that gets you up and off your ass? Me its proving them wrong and being better then I was yesterday.
TY - JOUR. T1 - Targeting argininosuccinate synthetase negative melanomas using combination of arginine degrading enzyme and cisplatin. AU - Savaraj, Niramol. AU - Wu, Chunjing. AU - Li, Ying Ying. AU - Wangpaichitr, Medhi. AU - You, Min. AU - Bomalaski, John. AU - He, Wei. AU - Kuo, Macus Tien. AU - Feun, Lynn G. PY - 2015. Y1 - 2015. N2 - Loss of argininosuccinate synthetase (ASS) expression in melanoma makes these tumor cells vulnerable to arginine deprivation. Pegylated arginine deiminase (ADIPEG20) which degrades arginine to citrulline and ammonia has been used clinically and partial responses and stable disease have been noted with minimal toxicity. In order to improve the therapeutic efficacy of ADI-PEG20, we have combined ADI-PEG20 with a DNA damaging agent, cisplatin. We have shown that the combination of the two drugs together significantly improved the therapeutic efficacy when compared to ADI-PEG20 alone or cisplatin alone in 4 melanoma cell lines, regardless of their BRAF mutation. ...
Dr. Hoepfner responded: None. There should be no change in the partial liver donors life expectancy. The remaining liver will be sufficient to allow for a full normal life.
Notch regulates BMP responsiveness and lateral branching in vessel networks via SMAD6. Mouillesseaux KP, Wiley DS, Saunders LM, Wylie LA, Kushner EJ, Chong DC, Citrin KM, Barber AT, Park Y, Kim JD, Samsa LA, Kim J, Liu J, Jin SW, Bautch VL. Nat Commun. 2016 Nov 11;7:13247. doi: 10.1038/ncomms13247. ...
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Definition of ass - an animal of the horse family, which is typically smaller than a horse and has longer ears and a braying call., a foolish or stupi
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Just because that wasnt dramatic enough, after the surgery, the doctor decided to verbally attack us as a group. He felt like we were questioning him too much, said that if we had some "issue" with him that we had better find us another doctor, that we had better "watch out", and basically threatened to remove himself if we didnt treat him with respect. This was all provoked only by Dads wife asking if she needed to be in on a meeting between doctors (she was joking, and laughed when she said it). Obviously we are all under stress, but this took us completely off guard. We all felt it best to just apologize and kiss his ass, since he is our only hope for my Dad... but talk about knocking us on our asses. We stood around and just stared at each other for a minute..."Did that just happen ...
Thats one of the funniest comments ive read on here in a long time. You shoulda posted it on the main picture for everyone to enjoy Derp. ...
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Attention deficit hyperactivity disorder (ADHD) is a childhood onset disorder, for which there is good evidence that genetic factors contribute to the aetiology. Recently reported linkage findings suggested evidence of a susceptibility locus on chromosome 16p13 (maximum LOD score of 4.2, P=5 x 10(-6 …
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E5006-15. doi: 10.1073/pnas.1321305110. Epub 2013 Dec 2. Research Support, N.I.H., Extramural
SWISS-MODEL Template Library (SMTL) entry for 1kh3.1. Crystal Structure of Thermus thermophilus HB8 Argininosuccinate Synthetase in complex with inhibitor
Cuisine Culture Josiah Citrin, Los Angeles Two-Star Michelin chef Josiah Citrin takes us to Santa Monicas farmers market, where we try local and organic produce that go into his main course: a Liberty Duck Breast a lOrange served with a colorful Blood Orange Reduction and Tender Baby Turnips. He then leads us to his renowned restaurant Melisse where he shows us the intricacies behind the appetizer: a Sweet Onion Parmesan Soup with Crabcake and Meyer Lemon. Perfect harmony is created with Warm Crispy Beignets served with Spiced Chocolate Sauce and Cream Gelato. D ...
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Barbara Molon, Andrielly HR Agnellini, David A Wink, Deborah Citrin, Michael P Vitek, Carol Colton, Roberto Pacelli, Rygeio Ogawa, Douglas D Thomas, Katrina M Miranda, Michael G ...
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This Kardashian phenomenon is really part of a national zeitgeist concerning big butts. Hear us out: The rise of well-proportioned Kim Kardashian and...
We read. Weve all heard. We know that: There are so many Gods, There are wondrous creeds. You only have to bear this in mind. Whoever and wherever you are, the simple act of being kind is all this sad world needs. Action speaks louder than words ...
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Roswitha (NOTW), (dbdoty), (coiro), (karish), (mcb), (needtono), (arse), Renee (NOTW), (smash). Somehow, (chrys) got left out of the picture. (And, yes, there is some wierdness due to the panorama.) ...
Two of my kids keep making that groaning noise, like the one the demon-ghosts would make in THE GRUDGE. You know, the "Ughhhhhhhhhhhhhhh" noise. Its weirding me out. And no. My kids havent seen THE GRUDGE you ass hats. Or THE GRUDGE 2 ...
Citrullinemia. References[edit]. *^ "Citrulline - Compound Summary". PubChem Compound. USA: National Center for Biotechnology ...
CIRH1A Citrullinemia; 215700; ASS1 Citrullinemia, adult-onset type II; 603471; SLC25A13 Citrullinemia, type II, neonatal-onset ...
Citrullinemia is an inherited autosomal recessive disease. At least 50 mutations that cause type I citrullinemia have been ... Citrullinemia Urea cycle Synthetase PDB: 2nz2​; Karlberg T, Collins R, van den Berg S, Flores A, Hammarström M, Högbom M, ... and the other signs and symptoms of type I citrullinemia. Treatment for this defect includes a low-protein diet and dietary ... synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia". Hum. Genet ...
Citrullinemia Cystinosis Cystinuria Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set ...
Carritt B (1977). "Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9". Cytogenet ... Mutations in the chromosome 9 copy of ASS cause citrullinemia. 40% to 90% of bladder cancers are deficient in argininosuccinate ... 1995). "Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia". Hum. ... 1990). "Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia". J. Biol. Chem. 265 (19): 11361 ...
Increased serum levels of alpha-fetoprotein are sometimes found in Citrullinemia and Argininosuccinate synthetase deficiency. ...
... is associated with type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The ... deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)". J. Hum. Genet ... "Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate ...
1 in 100,000 Citrullinemia (CIT) < 1 in 100,000 Phenylketonuria (PKU) > 1 in 25,000 Maple syrup urine disease (MSUD) < 1 in ... of biopterin cofactor biosynthesis Defects of biopterin cofactor regeneration Tyrosinemia III Hypermethioninemia Citrullinemia ...
Cinchonism Circumscribed cutaneous aplasia of the vertex Circumscribed disseminated keratosis Jadassohn-Lew type Citrullinemia ...
... progressive familial intrahepatic 3 Citrullinemia, type II, adult-onset, congenital bilateral absence of vas deferens cystic ...
Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...
... deficiency Ornithine carbamoyltransferase deficiency Carbamoyl-phosphate synthase I deficiency disease Citrullinemia ...
... acytosiosis ALA-D deficiency porphyria citrullinemia chronic myelogenous leukemia (t9;22 - the Philadelphia chromosome) ...
... citrullinemia MeSH C10.228.140.163.100.320 --- galactosemias MeSH C10.228.140.163.100.355 --- hartnup disease MeSH C10.228. ...
... citrullinemia MeSH C18.452.100.100.320 --- galactosemias MeSH C18.452.100.100.355 --- hartnup disease MeSH C18.452.100.100.360 ... citrullinemia MeSH C18.452.648.151.300 --- fucosidosis MeSH C18.452.648.151.320 --- galactosemias MeSH C18.452.648.151.330 --- ... citrullinemia MeSH C18.452.648.066.470 --- homocystinuria MeSH C18.452.648.066.475 --- hyperargininemia MeSH C18.452.648.066. ...
... citrullinemia MeSH C16.320.565.150.320 --- galactosemias MeSH C16.320.565.150.355 --- hartnup disease MeSH C16.320.565.150.360 ... citrullinemia MeSH C16.320.565.066.470 --- homocystinuria MeSH C16.320.565.066.475 --- hyperargininemia MeSH C16.320.565.066. ...
... synthase deficiency Carbamoyl phosphate synthetase deficiency Ornithine transcarbamoylase deficiency Citrullinemia (Deficiency ...
They had studied ketoacid therapy for another inborn error of metabolism, citrullinemia, in the late 1970s and they noticed ...
Arginase deficiency Citrullinemia N-acetylglutamate synthetase deficiency Ornithine translocase deficiency Carbamoyl phosphate ...
Disorders of urea cycle metabolism Citrullinemia Hyperammonemia (270.7) Disorders of straight-chain amino-acid metabolism ...
Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's disease) Diabetic bulla (bullosis ...
Chorea (disease) Myoclonus Dystonia Torsion dystonia Idiopathic dystonia Chromosomal abnormalities Citrullinemia Down syndrome ...
Type I citrullinemia (Online Mendelian Inheritance in Man (OMIM) 215700, also known as classic citrullinemia) usually becomes ... Citrullinemia, Classic GeneReviews/NIH/UW entry on Citrin deficiency and Citrullinemia Type II. ... leading to the characteristic features of type I citrullinemia. The symptoms of type II citrullinemia (Online Mendelian ... Type I citrullinemia is the most common form of the disorder, affecting about one in 57,000 births worldwide. Mutations in the ...
"OMIM Entry - # 215700 - CITRULLINEMIA, CLASSIC". omim.org. Retrieved 2017-07-07. "Citrullinemia Type 1 - NORD (National ... Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in ... ASS1 is the gene mutated in citrullinemia type I. Mutations in this gene have an autosomal recessive mode of inheritance. ... Other diseases that may appear similar to CTLN1 include the organic acidemias and citrullinemia type II. To diagnose CTLN1, a ...
GABA is a major inhibitory neurotransmitter in the central nervous system. It modulates the activity of several neurotransmitters including dopamine, serotonin, and norepinephrine. GABA is synthesized in a single step from its precursor glutamate by glutamic acid decarboxylase. GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase. The succinic semialdehyde can be converted into either succinic acid by SSADH or to GHB by the enzyme succinic semialdehyde reductase.[7] The absence of SSADH leads to a 30-fold increase of GHB and a 2-4 fold increase of GABA in the brains of patients with SSADH deficiency as compared to normal brain concentrations of the compounds. Elevations of GHB have been shown to induce spike and wave activity similar to that seen in generalized absence epilepsy in animal models as well, which has motivated researchers to increase their knowledge on the ...
... citrullinemia); ornithine transcarbamylase (OTC) deficiency; arginase deficiency and N-acetylglutamate synthetase (NAGS) ...
We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case ... Molecular genetics of citrullinemia types I and II.. *Hye In Woo. , Hyung-Doo Park. , Yong-Wha Lee ... Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low- ... We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case ...
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