Citrullinemia. Medical search

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)

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.

Citrulline is an amino acid that plays a role in the production of nitric oxide, which helps to dilate blood vessels and improve blood flow.

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.

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.

Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.

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).

A thyroid hormone transport protein found in serum. It binds about 75% of circulating THYROXINE and 70% of circulating TRIIODOTHYRONINE.

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.

Proteins involved in the transport of specific substances across the membranes of the MITOCHONDRIA.

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.

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)

Citrullinemia is a rare genetic disorder that affects the metabolism of the amino acid ornithine. It is caused by a deficiency in the enzyme ornithine transcarbamylase (OTC), which is responsible for converting ornithine to citrulline. This leads to a buildup of ornithine and a decrease in citrulline levels in the body. There are three main types of citrullinemia: classical citrullinemia, intermediate citrullinemia, and hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Classical citrullinemia is the most severe form and typically presents in the first few days of life with symptoms such as vomiting, seizures, and difficulty feeding. Intermediate citrullinemia is less severe and may not present until later in life. HHH syndrome is the mildest form and may not present until adulthood. Citrullinemia is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. It is a rare disorder, with an estimated incidence of 1 in 50,000 to 1 in 100,000 live births.

Argininosuccinate synthase (ASS) is an enzyme that plays a crucial role in the urea cycle, which is a series of metabolic reactions that occur in the liver and kidneys to remove excess nitrogen from the body. The urea cycle involves the conversion of ammonia, a toxic byproduct of protein metabolism, into urea, which is a less toxic compound that can be safely excreted from the body in urine. ASS catalyzes the formation of argininosuccinate from citrulline and aspartate, which are two amino acids that are produced during the urea cycle. This reaction is a key step in the cycle, as it generates the amino acid arginine, which is used in the production of other important molecules such as nitric oxide and creatine. In the medical field, ASS is often studied in the context of inherited disorders of the urea cycle, such as argininosuccinic aciduria, which is a rare genetic condition that results from a deficiency of ASS activity. This disorder can lead to the accumulation of toxic levels of ammonia in the body, which can cause a range of symptoms including seizures, coma, and even death. Treatment for argininosuccinic aciduria typically involves dietary restrictions and medications to help remove excess ammonia from the body.

Citrulline is an amino acid that is naturally produced in the body and is also found in certain foods, such as watermelon and kiwi. In the medical field, citrulline is used as a dietary supplement and is believed to have a number of potential health benefits. Some of the potential benefits of citrulline include: * Improving exercise performance: Citrulline has been shown to increase blood flow to the muscles, which may help improve exercise performance and reduce muscle fatigue. * Supporting heart health: Citrulline may help improve blood flow to the heart and reduce blood pressure, which may help reduce the risk of heart disease. * Supporting kidney health: Citrulline may help improve blood flow to the kidneys and reduce the risk of kidney damage. * Supporting immune function: Citrulline may help boost the immune system and reduce the risk of infection. It is important to note that more research is needed to fully understand the potential health benefits of citrulline and to determine the appropriate dosage and potential side effects. As with any dietary supplement, it is important to talk to a healthcare professional before starting to take citrulline.

Amino acid metabolism, inborn errors refer to a group of genetic disorders that affect the metabolism of amino acids, which are the building blocks of proteins. These disorders are caused by mutations in genes that encode enzymes involved in the metabolism of amino acids, leading to a deficiency or dysfunction of the corresponding enzyme. As a result, the normal metabolic pathways are disrupted, leading to the accumulation of toxic intermediates and the deficiency of essential amino acids. Inborn errors of amino acid metabolism can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, and neurological problems. Early diagnosis and treatment are crucial to prevent irreversible damage and improve the quality of life of affected individuals.

Sodium benzoate is a preservative that is commonly used in the medical field to prevent the growth of microorganisms in various medical products, such as injectable solutions, eye drops, and topical creams. It is a white crystalline powder that is soluble in water and is often added to solutions in concentrations of 0.1% to 1%. Sodium benzoate works by inhibiting the growth of bacteria, fungi, and yeasts by disrupting their metabolic processes. It is generally considered safe for use in medical products, but high concentrations can cause skin irritation and allergic reactions in some individuals. In addition to its use as a preservative, sodium benzoate has also been studied for its potential therapeutic effects. It has been shown to have anti-inflammatory and anti-cancer properties, and may be useful in the treatment of certain conditions, such as rheumatoid arthritis and cancer. However, more research is needed to fully understand its potential therapeutic applications.

Hyperammonemia is a medical condition characterized by abnormally high levels of ammonia in the blood. Ammonia is a toxic substance that is produced when the body breaks down proteins. In healthy individuals, the liver converts ammonia into a less toxic substance called urea, which is then excreted in the urine. However, in individuals with hyperammonemia, the liver is unable to convert ammonia into urea efficiently, leading to a buildup of ammonia in the blood. This can be caused by a variety of factors, including liver disease, kidney failure, inherited metabolic disorders, and certain medications. Symptoms of hyperammonemia can include confusion, irritability, vomiting, seizures, and a decreased level of consciousness. In severe cases, hyperammonemia can lead to coma and even death. Treatment for hyperammonemia typically involves reducing the production of ammonia and increasing its excretion from the body, through medications, dietary changes, and in some cases, liver transplantation.

Trypsin Inhibitor, Kazal Pancreatic (TIK) is a type of protein found in the pancreas that inhibits the activity of trypsin, an enzyme that plays a crucial role in the digestion of proteins. TIK is a member of the Kazal family of protease inhibitors, which are a group of proteins that regulate the activity of proteases, enzymes that break down proteins. TIK is produced by cells in the pancreas and is secreted into the digestive tract, where it helps to protect the pancreas from self-digestion by inhibiting the activity of trypsin. TIK is also involved in the regulation of other proteases in the digestive tract, and it has been shown to have anti-inflammatory and anti-cancer effects. In the medical field, TIK has been studied for its potential therapeutic applications in a variety of conditions, including pancreatitis, inflammatory bowel disease, and cancer. It is also being investigated as a potential target for the development of new drugs for the treatment of these conditions.

Thyroxine-Binding Globulin (TBG) is a protein found in the blood that binds to thyroid hormones, specifically thyroxine (T4) and triiodothyronine (T3). TBG is produced by the liver and plays a crucial role in regulating the levels of thyroid hormones in the body. TBG can bind up to 95% of the circulating thyroxine in the blood, making it the primary carrier of thyroid hormones in the bloodstream. The amount of TBG in the blood can be affected by various factors, including pregnancy, liver disease, and certain medications. In the medical field, TBG levels are often measured as part of thyroid function tests to assess thyroid hormone levels and diagnose thyroid disorders. Abnormal TBG levels can indicate problems with thyroid hormone metabolism or liver function.

Ammonia is a chemical compound with the formula NH3. It is a colorless, pungent gas with a strong, unpleasant odor. In the medical field, ammonia is often used as a diagnostic tool to test for liver and kidney function. High levels of ammonia in the blood can be a sign of liver or kidney disease, as well as certain genetic disorders such as urea cycle disorders. Ammonia can also be used as a treatment for certain conditions, such as metabolic acidosis, which is a condition in which the body produces too much acid. However, ammonia can be toxic in high concentrations and can cause respiratory and neurological problems if inhaled or ingested.

Mitochondrial Membrane Transport Proteins (MMTPs) are proteins that are responsible for regulating the movement of molecules across the inner and outer mitochondrial membranes. These proteins play a crucial role in maintaining the proper functioning of the mitochondria, which are the energy-producing organelles in cells. MMTPs are involved in a variety of cellular processes, including the transport of ions, metabolites, and signaling molecules into and out of the mitochondria. They are also involved in the regulation of the mitochondrial membrane potential, which is essential for the proper functioning of the electron transport chain and ATP synthesis. Mutations in MMTPs can lead to a variety of mitochondrial diseases, which are characterized by impaired energy production and a range of symptoms, including muscle weakness, neurological problems, and organ failure. Therefore, understanding the function and regulation of MMTPs is important for the development of new treatments for these diseases.

Ligases are enzymes that catalyze the formation of covalent bonds between two molecules, typically by joining together small molecules such as nucleotides, amino acids, or sugars. In the medical field, ligases play important roles in various biological processes, including DNA replication, transcription, and translation. One example of a ligase enzyme is DNA ligase, which is responsible for joining together the two strands of DNA during replication and repair. Another example is RNA ligase, which is involved in the formation of RNA molecules by joining together RNA nucleotides. Mutations or deficiencies in ligase enzymes can lead to various medical conditions, such as genetic disorders, cancer, and viral infections. For example, mutations in the DNA ligase gene can cause rare inherited disorders such as Cockayne syndrome and Xeroderma pigmentosum, which are characterized by sensitivity to sunlight and an increased risk of cancer. Similarly, mutations in the RNA ligase gene can lead to various forms of cancer, including breast cancer and leukemia.

Diagnosis of citrullinemia type I is elevated citrulline in the blood.[citation needed] Type I citrullinemia is the most common ... 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 The U.S. National Library of ... leading to the characteristic features of type I citrullinemia.[citation needed] The symptoms of type II citrullinemia (Online ...

https://en.wikipedia.org/wiki/Citrullinemia

"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 ...

https://en.wikipedia.org/wiki/Citrullinemia_type_I

CIRH1A Citrullinemia; 215700; ASS1 Citrullinemia, adult-onset type II; 603471; SLC25A13 Citrullinemia, type II, neonatal-onset ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

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 ... Citrullinemia, Classic Portal: Biology (Articles with short description, Short description is different from Wikidata, Protein ...

https://en.wikipedia.org/wiki/Argininosuccinate_synthase

Citrullinemia Cystinosis Cystinuria Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set ...

https://en.wikipedia.org/wiki/Hartnup_disease

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 ...

https://en.wikipedia.org/wiki/Argininosuccinate_synthetase_1

Citrullinemia Early references spell Ryo Odake's name as Ryo Othake. "Citrulline - Compound Summary". PubChem Compound. USA: ...

https://en.wikipedia.org/wiki/Citrulline

Increased serum levels of alpha-fetoprotein are sometimes found in citrullinemia and argininosuccinate synthetase deficiency. ...

https://en.wikipedia.org/wiki/Elevated_alpha-fetoprotein

Type II citrullinemia is a liver disease caused by mutations in the SLC25A13 gene, which codes for the citrin protein. Most of ... Citrin is associated with type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). ... 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 ...

https://en.wikipedia.org/wiki/Citrin

Arginase deficiency Citrullinemia N-acetylglutamate synthetase deficiency Ornithine translocase deficiency Carbamoyl phosphate ...

https://en.wikipedia.org/wiki/Hyperammonemia

... citrullinemia, renal tubular acidosis, and many others were identified. His group also discovered the largest gene in the ...

https://en.wikipedia.org/wiki/Stephen_W._Scherer

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 ...

https://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs

Cinchonism Circumscribed cutaneous aplasia of the vertex Circumscribed disseminated keratosis Jadassohn-Lew type Citrullinemia ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's disease) Diabetic bulla (bullosis ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

... progressive familial intrahepatic 3 Citrullinemia, type II, adult-onset, congenital bilateral absence of vas deferens cystic ...

https://en.wikipedia.org/wiki/Chromosome_7

Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn ...

https://en.wikipedia.org/wiki/Newborn_screening

... acytosiosis ALA-D deficiency porphyria Amyotrophic lateral sclerosis citrullinemia Coronary artery disease chronic myelogenous ...

https://en.wikipedia.org/wiki/Chromosome_9

... deficiency Ornithine carbamoyltransferase deficiency Carbamoyl-phosphate synthase I deficiency disease Citrullinemia ...

https://en.wikipedia.org/wiki/Congenital_disorders_of_amino_acid_metabolism

... citrullinemia MeSH C10.228.140.163.100.320 - galactosemias MeSH C10.228.140.163.100.355 - hartnup disease MeSH C10.228.140.163. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)

... citrullinemia MeSH C18.452.100.100.320 - galactosemias MeSH C18.452.100.100.355 - Hartnup disease MeSH C18.452.100.100.360 - ... citrullinemia MeSH C18.452.648.066.470 - homocystinuria MeSH C18.452.648.066.475 - hyperargininemia MeSH C18.452.648.066.477 - ... citrullinemia MeSH C18.452.648.151.300 - fucosidosis MeSH C18.452.648.151.320 - galactosemias MeSH C18.452.648.151.330 - ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)

... 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 C16.320.565.066.477 - ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)

... deficiency Citrullinemia type I (Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of ...

https://en.wikipedia.org/wiki/Urea_cycle

They had studied ketoacid therapy for another inborn error of metabolism, citrullinemia, in the late 1970s and they noticed ...

https://en.wikipedia.org/wiki/Sodium_phenylbutyrate

Histidinemia Hyperhistidinemia Imidazole aminoaciduria Urocanic aciduria 270.6 Disorders of urea cycle metabolism Citrullinemia ...

https://en.wikipedia.org/wiki/List_of_ICD-9_codes_240–279:_endocrine,_nutritional_and_metabolic_diseases,_and_immunity_disorders

Chorea (disease) Myoclonus Dystonia Torsion dystonia Idiopathic dystonia Chromosomal abnormalities Citrullinemia Down syndrome ...

https://en.wikipedia.org/wiki/Tourettism

https://en.wikipedia.org/wiki/Citrullinemia

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Explore ... Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected ... Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. The proteins produced from these genes play roles in the urea ... Because citrullinemia is caused by problems with the urea cycle, it belongs to a class of genetic diseases called urea cycle ...

https://medlineplus.gov/genetics/condition/citrullinemia/

Citrullinemia cases have been reported in Japan that show a particular form of citrullinemia in adults that had been previously ... Both parents of an infant with citrullinemia are assumed to be obligate heterozygotes because citrullinemia is an autosomal ... encoded search term (Citrullinemia) and Citrullinemia What to Read Next on Medscape ... In citrullinemia, the genetic defect is expressed in all of these tissues. The body is unable to circumvent the defect by ...

https://emedicine.medscape.com/article/942435-overview

Comparison of citrullinemia patients and the role of molecular testing and enzyme analysis in the management of citrullinemia ... citrullinemia), a disease belonging to the family of urea cycle disorders. When first diagnosed, people with citrullinemia ... Citrullinemia type I, a urea cycle defect caused by a deficiency of argininosuccinate synthetase, was diagnosed on the basis of ... Because citrullinemia involves a particular defect in the urea cycle, studying this finding further will allow better measure ...

https://nucdf.org/research/disorder-specific-research/citrullinemia.html

... Parent Information Star-G Citrulline Fact Sheet Genetics Home Reference Citrulline Fact Sheet Family Support ...

https://oklahoma.gov/health/services/children-family-health/screening-and-special-services/newborn-screening-program/disorders-screened/citrullinemia.html

encoded search term (Citrullinemia) and Citrullinemia What to Read Next on Medscape ... In citrullinemia, the genetic defect is expressed in all of these tissues. The body is unable to circumvent the defect by ... Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. Genet Mol Res. ... Matsuda I, Anakura M, Arashima S, Saito Y, Oka Y. A variant form of citrullinemia. J Pediatr. 1976 May. 88(5):824-6. [QxMD ...

https://emedicine.dev01.medscape.com/article/942435-overview

A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less ... Adult-onset citrullinemia type 1; adult-onset citrullinemia type 1; adult-onset citrullinemia type I; Late-onset citrullinemia ... type 1; late-onset citrullinemia type 1; Late-onset citrullinemia type I; late-onset citrullinemia type I. ... An autopsy case with adult onset type II citrullinemia showing myelopathy.. Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, ...

https://https.ncbi.nlm.nih.gov/medgen/831252

Citrullinemia, type II Hypermethioninemia Benign hyperphenylalaninemia Biopterin defect in cofactor biosynthesis Biopterin ...

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr6102a1.htm

Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the ... From: Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A , C, in ASS1: a case report and literature ...

https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0836-5/figures/1

Citrullinemia, type 1. ASS1. CNV. Ataxia-telangiectasia. ATM. CNV+. Renal tubular acidosis and deafness, ATP6V1B1-related. ...

https://www.thermofisher.com/us/en/home/life-science/sequencing/next-generation-sequencing/ion-torrent-next-generation-sequencing-applications/reproductive-health-research/expanded-carrier-screening.html?cid=csd_rph_sbu_r01_co_cp1445_pjt7073_colrphngs_0so_blg_op_edu_og_s00_rphbyngs

Citrullinemia * N-Acetylglutamate Synthetase Deficiency * Argininosuccinate Lyase (ASL) Deficiency * Genetics of Hyperammonemia ...

https://reference.medscape.com/article/950672-overview

... citrullinemia); argininosuccinate lyase deficiency (ASLD, argininosuccinic aciduria); arginase deficiency (ARGD, argininemia); ... hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome; and citrullinemia type II (CITRD).. Overall Goals of the ...

https://www.rarediseasesnetwork.org/news/impact-features/UCDC/2021-12/consortium-spotlight-advancing-discoveries-urea-cycle-disorders

There do two manifestations of Citrullinemia, Type I and Type II. The insulin tiers logged under ages of the stream narrowing, ...

http://shotglass.org/photos/raw/20061129/ebook.php?q=shop-%D0%BD%D0%B0%D1%86%D1%96%D0%BE%D0%BD%D0%B0%D0%BB%D1%8C%D0%BD%D0%B5-%D0%BF%D0%B8%D1%82%D0%B0%D0%BD%D0%BD%D1%8F-%D0%B2-%D0%BD%D0%BE%D1%80%D0%B2%D0%B5%D0%B3%D1%96%D1%97/

Christian was born with a genetic disorder of ones metabolism called citrullinemia, which means the body produces more ammonia ...

https://fox2now.com/news/missouri/watch-live-day-3-of-dawan-ferguson-trial/

Citrullinemia type 1 (CTLN1) is an autosomal recessive disorder of metabolism caused by a deficiency of argininosuccinate ... Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. Gene ...

https://profiles.stanford.edu/kristina-cusmano-ozog

Hyperhistidinemia Imidazole aminoaciduria 270.6 Disorders of urea cycle metabolism Argininosuccinic aciduria Citrullinemia ...

https://theodora.com/diseases/endocrine_nutritional_metabolic_immunity.html

neonatal-onset type II citrullinemia nephrogenic diabetes insipidus type 2 nephronophthisis + nephrotic syndrome + ...

https://rgd.mcw.edu/rgdweb/ontology/view.html?acc_id=DOID:0050816

CITRULLINEMIA. CITRULINEMIA. COLAGENASA DE NEUTROFILO. NEUTROPHIL COLLAGENASE. COLAGENASE DE NEUTRÓFILO. COLAGENASA ...

https://decs2011.bvsalud.org/E/news2000eip.htm

Citrullinemia Nonketotic Hyperglycinemia Argininosuccinic Aciduria Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ...

https://trialsearch.who.int/Trial2.aspx?TrialID=NCT05910151

CITRULLINEMIA. CITRULINEMIA. COLAGENASA DE NEUTROFILO. NEUTROPHIL COLLAGENASE. COLAGENASE DE NEUTRÓFILO. COLAGENASA ...

https://decs2016.bvsalud.org/E/news2000eip.htm

CITRULLINEMIA. CITRULINEMIA. COLAGENASA DE NEUTROFILO. NEUTROPHIL COLLAGENASE. COLAGENASE DE NEUTRÓFILO. COLAGENASA ...

https://decs2019.bvsalud.org/E/news2000eip.htm