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)
Carbamyl Phosphate
Carbamoyl-Phosphate Synthase (Ammonia)
Mannosidase Deficiency Diseases
Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
Immunologic Deficiency Syndromes
Myo-Inositol-1-Phosphate Synthase
Ornithine Carbamoyltransferase
Multiple Sulfatase Deficiency Disease
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
3-Phosphoshikimate 1-Carboxyvinyltransferase
3-Deoxy-7-Phosphoheptulonate Synthase
Aspartate Carbamoyltransferase
Electron Transport Complex I
A flavoprotein and iron sulfur-containing oxidoreductase complex that catalyzes the conversion of UBIQUINONE to ubiquinol. In MITOCHONDRIA the complex also couples its reaction to the transport of PROTONS across the internal mitochondrial membrane. The NADH DEHYDROGENASE component of the complex can be isolated and is listed as EC 1.6.99.3.
Starch Synthase
Pyruvate Carboxylase Deficiency Disease
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Carbamates
Derivatives of carbamic acid, H2NC(=O)OH. Included under this heading are N-substituted and O-substituted carbamic acids. In general carbamate esters are referred to as urethanes, and polymers that include repeating units of carbamate are referred to as POLYURETHANES. Note however that polyurethanes are derived from the polymerization of ISOCYANATES and the singular term URETHANE refers to the ethyl ester of carbamic acid.
Leigh Disease
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Aldehyde-Lyases
Mitochondrial Diseases
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Sulfite Oxidase
Metabolism, Inborn Errors
Cerebrospinal Fluid
Uric Acid
Sulfite Reductase (Ferredoxin)
Oxidoreductases Acting on Sulfur Group Donors
Protein Disulfide Reductase (Glutathione)
Propionic Acidemia
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Hyperammonemia
Methylmalonyl-CoA Decarboxylase
Nutrition Therapy
Propionates
Amino Acid Metabolism, Inborn Errors
Hepatic Veno-Occlusive Disease
Persistent Fetal Circulation Syndrome
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).
Dihydroorotase
Bone Marrow Transplantation
Fatty Acids
Thrombomodulin
Genome
ADAM Proteins
Osteonectin
Sequence Analysis, DNA
Methylmalonic Acid
Diabetic Ketoacidosis
Methylmalonyl-CoA Mutase
Hyperaldosteronism
Ammonia detoxification by continuous venovenous haemofiltration in an infant with urea cycle defect. (1/4)
We report the case of a newborn baby with carbamoyl phosphate synthetase deficiency. He presented at 2 weeks of life, deteriorating to a state of hyperammonaemic coma and respiratory failure. Rapid detoxification was successfully achieved by continuous venovenous haemofiltration while a definitive diagnosis and treatment were determined. The ammonia clearance achieved by continuous venovenous haemofiltration was greater than 20 mL/min/m(2), which is superior to that achieved by peritoneal dialysis and arteriovenous haemofiltration in this age-group. (+info)Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. (2/4)
We present brain MR images in three patients with neonatal-onset hyperammonemic encephalopathy resulting from urea-cycle disorders (two sisters with deficiency of the carbamyl phosphate synthetase I reaction step and one boy with an ornithine transcarbamylase deficiency). MR imaging revealed almost identical findings of injury to the bilateral lentiform nuclei and the deep sulci of the insular and perirolandic regions; to our knowledge, this pattern has not been previously reported. We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period. (+info)Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (3/4)
Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led to an emerging, longer-lived cohort of patients. The natural history of some of these disorders began to point to pathophysiological processes that may be unrelated to the primary cause of acute morbidity and mortality, i.e., hyperammonemia. Carbamyl phosphate synthetase I single nucleotide polymorphisms may be associated with altered vascular resistance that becomes clinically relevant when specific environmental stressors are present. Patients with argininosuccinic aciduria due to a deficiency of argininosuccinic acid lyase are uniquely prone to chronic hepatitis, potentially leading to cirrhosis. Moreover, our recent observations suggest that there may be an increased prevalence of essential hypertension. In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia. An intriguing potential pathophysiological link is the dysregulation of intracellular arginine availability and its potential effect on nitric oxide (NO) metabolism. By combining detailed natural history studies with the development of tissue-specific null mouse models for urea cycle enzymes and measurement of nitrogen flux through the cycle to urea and NO in UCD patients, we may begin to dissect the contribution of different sources of arginine to NO production and the consequences on both rare genetic and common multifactorial diseases. (+info)Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. (4/4)
BACKGROUND: The combination of intravenous sodium phenylacetate and sodium benzoate has been shown to lower plasma ammonium levels and improve survival in small cohorts of patients with historically lethal urea-cycle enzyme defects. METHODS: We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia. RESULTS: Overall survival was 84% (250 of 299 patients). Ninety-six percent of the patients survived episodes of hyperammonemia (1132 of 1181 episodes). Patients over 30 days of age were more likely than neonates to survive an episode (98% vs. 73%, P<0.001). Patients 12 or more years of age (93 patients), who had 437 episodes, were more likely than all younger patients to survive (99%, P<0.001). Eighty-one percent of patients who were comatose at admission survived. Patients less than 30 days of age with a peak ammonium level above 1000 micromol per liter (1804 microg per deciliter) were least likely to survive a hyperammonemic episode (38%, P<0.001). Dialysis was also used in 56 neonates during 60% of episodes and in 80 patients 30 days of age or older during 7% of episodes. CONCLUSIONS: Prompt recognition of a urea-cycle disorder and treatment with both sodium phenylacetate and sodium benzoate, in conjunction with other therapies, such as intravenous arginine hydrochloride and the provision of adequate calories to prevent catabolism, effectively lower plasma ammonium levels and result in survival in the majority of patients. Hemodialysis may also be needed to control hyperammonemia, especially in neonates and older patients who do not have a response to intravenous sodium phenylacetate and sodium benzoate. (+info)
Vancomycin clearance during continuous venovenous haemofiltration in critically ill patients | Read by QxMD
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List of MeSH codes (C10)
... carbamoyl-phosphate synthase i deficiency disease MeSH C10.228.140.163.100.168 - cerebral amyloid angiopathy, familial MeSH ... pyruvate carboxylase deficiency disease MeSH C10.228.140.163.100.750 - pyruvate dehydrogenase complex deficiency disease MeSH ... lewy body disease MeSH C10.228.140.079.862.500 - parkinson disease MeSH C10.228.140.079.862.800 - parkinson disease, secondary ... lewy body disease MeSH C10.228.662.600.400 - parkinson disease MeSH C10.228.662.600.700 - parkinson disease, secondary MeSH ...
List of diseases (C)
Caratolo-Cilio-Pessagno syndrome Carbamoyl phosphate synthetase deficiency Carbamoyl-phosphate synthase I deficiency disease ( ... Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease ... Marie-Tooth disease type 2C Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease ... ornithine carbamoyl phosphate deficiency) Carbohydrate deficient glycoprotein syndrome Carbon baby syndrome Carbonic anhydrase ...
List of MeSH codes (C16)
Hartnup disease MeSH C16.320.565.066.275 - carbamoyl-phosphate synthase I deficiency disease MeSH C16.320.565.066.340 - ... carbamoyl-phosphate synthase I deficiency disease MeSH C16.320.565.150.168 - cerebral amyloid angiopathy, familial MeSH C16.320 ... pyruvate carboxylase deficiency disease MeSH C16.320.565.202.810.766 - pyruvate dehydrogenase complex deficiency disease MeSH ... pyruvate carboxylase deficiency disease MeSH C16.320.565.150.750 - pyruvate dehydrogenase complex deficiency disease MeSH ...
Methylmalonyl-CoA mutase deficiency
... such as ammonia-dependent-carbamoyl-phosphate synthase or CPS1), and inhibits its mechanism of action. The combination of ... People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of ... Methylmalonyl-CoA mutase "Methylmalonyl-Coenzyme A mutase deficiency". The Genetic and Rare Diseases Information Center. NIH. ... Methylmalonyl-CoA mutase deficiency is caused by genetic defect in the MUT gene responsible for encoding the enzyme. Deficiency ...
Citrullinemia type I
... ornithine transcarbamylase deficiency, arginase deficiency, and N-Acetylglutamate synthase deficiency. Other diseases that may ... carbamoyl phosphate synthetase deficiency, argininosuccinic acid lyase deficiency, ... Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in ... These symptoms appear within days of birth in the more severe forms of the disease with complete deficiency of the enzyme. As ...
N-Acetylglutamate synthase deficiency
... in which carbamoyl phosphate is produced. Carbamoyl Phosphate Synthase 1, abbreviated as CPS1, is activated by its natural ... "Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia". Hum Genet. ... Carbamoyl phosphate synthase I is an enzyme found in mitochondrial matrix and it catalyzes the very first reaction of the Urea ... Deficiency in N-Acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme, will lead to urea cycle ...
Transferase
The disease is caused by a defect in the gene CPT2. This deficiency will present in patients in one of three ways: lethal ... Carbamoyl groups follow the formula NH2CO. In ATCase such a transfer is written as Carbamyl phosphate + L-aspertate → {\ ... Cysteine synthase, for example, catalyzes the formation of acetic acids and cysteine from O3-acetyl-L-serine and hydrogen ... However, ChAT deficiency is not believed to be the main cause of this disease. Patients with ALS show a marked decrease in ChAT ...
Succinic semialdehyde dehydrogenase deficiency
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... SSADH deficiency is inherited in an autosomal recessive fashion. Such diseases are caused by an error in a single DNA gene. ... SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme ... Ultimately, the metabolic pathway of SSADH deficiency is known, but how the enzyme deficiency and accumulation of GABA and GHB ...
3-Methylcrotonyl-CoA carboxylase deficiency
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... 2-Methylbutyryl-CoA dehydrogenase deficiency. *Beta-ketothiolase deficiency. *Maple syrup urine disease ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria or BMCC deficiency is ... such as biotinidase deficiency and holocarboxylase synthetase deficiency) can be treated solely with biotin. Individuals with ...
Biosynthesis
... the enzyme carbamoyl phosphate synthase combining glutamine with CO2 in an ATP dependent reaction to form carbamoyl phosphate. ... Lesch-Nyhan syndrome: this genetic disease is characterized by self- mutilation, mental deficiency, and gout. It is caused by ... Phosphate addition to UMP is catalyzed by a kinase enzyme. The enzyme CTP synthase catalyzes the next reaction step: the ... Aspartate carbamoyltransferase condenses carbamoyl phosphate with aspartate to form uridosuccinate. Dihydroorotase performs ...
HADHB
Carbamoyl phosphate synthase II. *Aspartate carbamoyltransferase. *Dihydroorotase. *P450-containing systems. *Cytochrome b6f ... The deficiency has presented as hydrops fetalis and HELLP syndrome in fetuses.[12] A compound heterozygous mutation of the ... "A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease". BMC Medical Genetics. 14: 125. ... This deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in ...
Histidinemia
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... "Archives of Disease in Childhood. 74 (4): 343-346. doi:10.1136/adc.74.4.343. PMC 1511463. PMID 8669938.. ... Histidinemia, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is ...
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... It was recently suggested that PKU may resemble amyloid diseases, such as Alzheimer's disease and Parkinson's disease, due to ... Main article: Tetrahydrobiopterin deficiency. A rarer form of hyperphenylalaninemia is tetrahydrobiopterin deficiency, which ... "Archives of Disease in Childhood. 78 (2): 122-6. doi:10.1136/adc.78.2.122. PMC 1717471. PMID 9579152.. ...
Tyrosinemia type II
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). ... Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT. ...
List of OMIM disorder codes
RASA1 Carbamoyl phosphate synthetase I deficiency; 237300; CPS1 Carbohydrate-deficient glycoprotein syndrome, type Ib; 602579; ... BMPR1B Chronic granulomatous disease due to deficiency of NCF-1; 233700; NCF1 Chronic granulomatous disease due to deficiency ... due to AAT deficiency; 613490; SERPINA1 Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency; ... CD96 C5 deficiency; 609536; C5 C6 deficiency; 612446; C6 C7 deficiency; 610102; C7 Caffey disease; 114000; COL1A1 Campomelic ...
Aminoacyl tRNA synthetase
Argininosuccinate synthase. *Holocarboxylase synthetase. *GMP synthase. *Asparagine synthetase. *Carbamoyl phosphate synthetase ... Charcot-Marie-Tooth (CMT) is the most frequent heritable disorder of the peripheral nervous system (a neuronal disease) and is ... growth hormone deficiency, sensory neuropathy, sensorineural hearing loss and skeletal dysphasia syndrome).[31] ... These correlations between aaRSs and certain diseases have opened up a new door to synthesizing therapeutics.[17] ...
Ocular albinism
Carbamoyl phosphate synthetase I deficiency. *Citrullinemia. *N-Acetylglutamate synthase deficiency. *Ornithine ... Also known as Forsius-Eriksson syndrome[8][9] or "Åland Island eye disease", mostly affects males, though females are often ... James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders ... On some hereditary diseases of the eye. Transactions of the Ophthalmological Societies of the United Kingdom, 1908-1909, 29: 57 ...
MT-TI
Carbamoyl phosphate synthetase I. *Ornithine transcarbamylase. *N-Acetylglutamate synthase. alcohol metabolism. *ALDH2 ... Complex IV Deficiency[edit]. MT-TI mutations have been associated with complex IV deficiency of the mitochondrial respiratory ... see also mitochondrial diseases. This article incorporates text from the United States National Library of Medicine, which is ... "Cytochrome c oxidase deficiency". Genetics Home Reference.. This article incorporates text from this source, which is in the ...
Nucleic acid metabolism
Deficiencies of enzymes involved in pyrimidine synthesis can lead to the genetic disease Orotic aciduria which causes excessive ... Carbamoyl phosphate synthase II. *Aspartate carbamoyltransferase. *Dihydroorotase. *Dihydroorotate dehydrogenase. *Orotidine 5 ... Defects or deficiencies in these enzymes can lead to a variety of diseases.[1] ... Deficiencies in enzymes involved in pyrimidine catabolism can lead to diseases such as Dihydropyrimidine dehydrogenase ...
Dihydrofolate reductase
Carbamoyl phosphate synthase II. *Aspartate carbamoyltransferase. *Dihydroorotase. *Dihydroorotate dehydrogenase. *Orotidine 5 ... Dihydrofolate reductase deficiency has been linked to megaloblastic anemia.[13] Treatment is with reduced forms of folic acid. ... Nyhan WL, Hoffmann GF, Barshop BA (30 December 2011). Atlas of Inherited Metabolic Diseases 3E. CRC Press. pp. 141-. ISBN 978-1 ... positive regulation of nitric-oxide synthase activity. • folic acid metabolic process. • tetrahydrobiopterin biosynthetic ...
Respiratory complex I
Carbamoyl phosphate synthetase I. *Ornithine transcarbamylase. *N-Acetylglutamate synthase. alcohol metabolism. *ALDH2 ... which may lead to Parkinson's disease.[51] Additionally, Esteves et al. (2010) found that cell lines with Parkinson's disease ... 2010) found that patients with severe complex I deficiency showed decreased oxygen consumption rates and slower growth rates. ... There is some evidence that complex I defects may play a role in the etiology of Parkinson's disease, perhaps because of ...
Category:Protein pages needing a picture
Carbamoyl phosphate synthase II. *Carbamoyl phosphate synthetase I. *Carbohydrate sulfotransferase. *Carbohydrate-binding ... 6-phosphogluconate dehydrogenase deficiency. *7SK RNA. *40S ribosomal protein S4, Y isoform 2 ... Borna disease virus. *BpuJI. *Bradykinin. *Bradykinin receptor. *Brain-specific angiogenesis inhibitor. *Branched chain amino ...
Carbamoyl phosphate synthetase I deficiency: MedlinePlus Genetics
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood ( ... Carbamoyl-phosphate synthase I deficiency disease. *Carbamyl-phosphate synthetase I deficiency disease ... medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/ Carbamoyl phosphate synthetase I deficiency. ... Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this ...
Search of: 'N-acetylglutamate synthase deficiency' OR 'Amino Acid Metabolism, Inborn Errors' - List Results - ClinicalTrials.gov
Carbamoyl-Phosphate Synthase I Deficiency Disease. *Ornithine Carbamoyltransferase Deficiency. *Drug: Carbaglu. *Drug: Placebo ... N-acetylglutamate synthase deficiency OR Amino Acid Metabolism, Inborn Errors (208 records) ... Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency. *Metabolic Disease ... 208 Studies found for: N-acetylglutamate synthase deficiency OR Amino Acid Metabolism, Inborn Errors ...
Search of: 'Propionic acidemia' - List Results - ClinicalTrials.gov
MedlinePlus: Genetic Conditions: C
Carbamoyl phosphate synthetase I deficiency. *Carbamoyl-phosphate synthase I deficiency disease, see Carbamoyl phosphate ... Carbamyl-phosphate synthetase I deficiency disease, see Carbamoyl phosphate synthetase I deficiency ... Cerebroside lipidosis syndrome, see Gaucher disease. *Cerebroside sulphatase deficiency disease, see Metachromatic ... CPT 1A deficiency, see Carnitine palmitoyltransferase I deficiency. *CPT deficiency, hepatic, type I, see Carnitine ...
CPS1 carbamoyl-phosphate synthase 1 - Gene - GTR - NCBI
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.[provided by RefSeq, May ... The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This ... CPS1 carbamoyl-phosphate synthase 1. Also known as: PHN; CPSASE1*See all available tests in GTR for this gene ...
European Medicines Agency - Human medicines - EU/3/10/821
Carbamoyl-phosphate synthase-1 deficiency is a long-term debilitating and life-threatening disease that leads to mental ... What is carbamoyl-phosphate synthase-1 deficiency?. Carbamoyl-phosphate synthase-1 deficiency is one of the inherited disorders ... Patients with carbamoyl-phosphate synthase-1 deficiency lack carbamoyl-phosphate synthase, one of the liver enzymes that are ... At the time of submission, this medicine was not authorised anywhere in the EU for carbamoyl-phosphate synthase-1 deficiency or ...
List of diseases (C) - Wikipedia
Caratolo-Cilio-Pessagno syndrome Carbamoyl phosphate synthetase deficiency Carbamoyl-phosphate synthase I deficiency disease ( ... Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease ... Marie-Tooth disease type 2C Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease ... ornithine carbamoyl phosphate deficiency) Carbohydrate deficient glycoprotein syndrome Carbon baby syndrome Carbonic anhydrase ...
List of MeSH codes (C10) - Wikipedia
... carbamoyl-phosphate synthase i deficiency disease MeSH C10.228.140.163.100.168 - cerebral amyloid angiopathy, familial MeSH ... pyruvate carboxylase deficiency disease MeSH C10.228.140.163.100.750 - pyruvate dehydrogenase complex deficiency disease MeSH ... lewy body disease MeSH C10.228.140.079.862.500 - parkinson disease MeSH C10.228.140.079.862.800 - parkinson disease, secondary ... lewy body disease MeSH C10.228.662.600.400 - parkinson disease MeSH C10.228.662.600.700 - parkinson disease, secondary MeSH ...
Liver symptoms - RightDiagnosis.com
List of 1644 disease causes of Liver symptoms, patient stories, diagnostic guides, 13 drug side effect causes. Diagnostic ... Camurati-Engelmann Disease ... enlarged liver and spleen*Carbamoyl-phosphate synthase 1 deficiency ... enlarged liver*Carcinoid ... Alstrom disease ... liver disease*Alstrom syndrome ... liver disease*Alstr m Syndrome ... liver disease*Alveolar echinococcosis ... Forbes disease ... liver scarring*Fructose-1-phosphate aldolase deficiency, hereditary ... liver damage if untreated. G. * ...
Propionic acidemia
Carbamoyl-Phosphate Synthase I Deficiency Disease; Ornithine Carbamoyltransferase Deficiency ... Review articles summarize what is currently known about a disease. They discuss research previously published by others. The ... disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives. ... disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives. ...
OReFiL: Help
Pediatrics - Research output
- Italian Ministry of Health
Carbamoyl-Phosphate Synthase I Deficiency Disease * Carbamoyl-Phosphate Synthase (Ammonia) * 3-Methylglutaconic Aciduria ... 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Rokicki, D ... 21-Hydroxylase deficiency: HLA genotypes and hormonal phenotypes in the families of 32 Italian patients.. Livieri, C., ... 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. Meazza, C., Lausch, E., Pagani, S., ...
DeCS - New terms
CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE CARBAMOIL-FOSFATO SINTASA I DOENÇA DA ... DISEASE ATTRIBUTES ATRIBUTOS DE ENFERMEDAD ATRIBUTOS DE DOENÇA DISEASE MODELS, AUTOIMMUNE, NERVOUS SYSTEM MODELOS DE ENFERMEDAD ... TRIGEMINAL NERVE DISEASES ENFERMEDADES DEL NERVIO TRIGEMINO DOENÇAS DO NERVO TRIGÊMEO TROCHLEAR NERVE DISEASES ENFERMEDADES DEL ... ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE ENFERMEDAD POR DEFICIENCIA DE ORNITINA CARBAMOILTRANSFERASA DOENÇA DA ...
DeCS
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease Carbamoyl Phosphate ... Carbamoyl Phosphate Synthase 1 Deficiency. Carbamoyl Phosphate Synthase 1 Deficiency Disease. Carbamoyl Phosphate Synthase 1 ... Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl-Phosphate ... Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency). Carbamoyl-Phosphate Synthase I ...
SelfDecode | Genome Analysis
Carbamoyl-Phosphate Synthase I Deficiency Disease CPS1. Carbon Tetrachloride Poisoning GFER. Basal Cell Carcinoma IL6. ... Skin Diseases CXCL3,IL1A,IL1B,IL1RN,IL6,PELI1,PTGS2,SOD2,TNF. Diabetes Mellitus, Type 1 ABCC8,HP,IGF1,IL10,NOS1,NOS3,PTPN22, ... Disease. Inference Gene. Liver Cirrhosis, Experimental ABCC5,ACP5,ADAM17,ADM,ALDH2,BCR,C5AR1,CASP1,CCL2,CCL5,CD86,CNP,CNR1,CPS1 ... Inflammatory Bowel Disease IL10,IL23R,IL6,NOD2,PTGS2,PTPN22,SLC11A1,TNF. Dermatitis, Contact CASP8,CD86,CLDN1,CYP1A1,S100A8, ...
Carlo Dionisi Vici - Research output
- Italian Ministry of Health
Carbamoyl-Phosphate Synthase I Deficiency Disease 100% * 3-Methylglutaconic Aciduria 95% * Carbamoyl Phosphate 78% ... 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Rokicki, D ... The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. Deodato, F. ... Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn ...
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Base Sequence , Carbamoyl-Phosphate Synthase (Ammonia)/chemistry , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis ... mh:Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis (1) Order by. Year (decreasing). Relevance. Year (increasing) ... Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified ... Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the ...
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach |...
... carbamoyl phosphate synthase I deficiency and ornithine transcarbamylase deficiency to maximize ammonia excretion through the ... Orphanet Journal of Rare Diseases volume 15, Article number: 68 (2020) Cite this article ... CPS-1: carbamoyl phosphate synthase I. CTH: cystathionine gamma-lyase. DBT: dihydrolipoamide branched chain transacylase E2. DH ... Propionyl-CoA inhibits N-acetylglutamate synthase and consequently, there is a lack of stimulation of carbamoylphosphate ...
Novel Pathogenic Variant (c.580C|T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified...
Base Sequence , Carbamoyl-Phosphate Synthase (Ammonia)/chemistry , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis ... Carbamoyl-Phosphate Synthase I Deficiency Disease Clinical aspect: Diagnosis Country/Region as subject: Asia Language: English ... Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified ... Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the ...
Cystic fibrosis - New World Encyclopedia
N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, ... Gauchers disease - Niemann-Pick disease - Farber disease - Fabrys disease - Metachromatic leukodystrophy - Krabbe disease. ... Cu Wilsons disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/ ... Symptomatic diseases. The symptoms of cystic fibrosis depend on the age of an individual, the extent to which the disease ...
Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Harvard Catalyst Profiles | Harvard Catalyst
Mitochondrial Diseases. *Carbamoyl-Phosphate Synthase I Deficiency Disease. *Cytochrome-c Oxidase Deficiency ... Multiple Acyl Coenzyme A Dehydrogenase Deficiency*Multiple Acyl Coenzyme A Dehydrogenase Deficiency ... Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J ... This graph shows the total number of publications written about "Multiple Acyl Coenzyme A Dehydrogenase Deficiency" by people ...
Cytochrome-c Oxidase Deficiency | Harvard Catalyst Profiles | Harvard Catalyst
Mitochondrial Diseases. *Carbamoyl-Phosphate Synthase I Deficiency Disease. *Cytochrome-c Oxidase Deficiency ... ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation ... A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can ... "Cytochrome-c Oxidase Deficiency" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ...
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Findings support the disease-causing role of the mutations reported to affect the CPS1 deficiency, revealing a key role of the ... The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.. ... Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by ... Co?expression of the carbamoyl?phosphate synthase 1 gene and its long non?coding RNA correlates with poor prognosis of patients ...
Tingling in one hand and Loss of coordination - Symptom Checker - check medical symptoms at RightDiagnosis
6. Besnier-Boeck-Schaumann disease. 7. Brain cancer. 8. Carbamoyl-phosphate synthase 1 deficiency. 9. Carpal Tunnel Syndrome. ... AND Acute complications of sickle cell disease in adolescents (1 match). *AND Acute complications of sickle cell disease in ... Hand disease *Hand disorder *Hand pain (60 causes) *more symptoms...» Broaden Your Search: Remove a Symptom. *REMOVE Tingling ... Home , Symptoms , Diseases , Diagnosis , Videos , Tools , Forum , About Us , Terms of Use , Privacy Policy , Site Map , ...
Remobilization of Phytol from Chlorophyll Degradation Is Essential for Tocopherol Synthesis and Growth of Arabidopsis. -...
... but reduced amounts of phytol and phytyl-phosphate compared with vte6 mutants, suggesting that phytol or phytyl-phosphate are ... Phytol and phytyl-phosphate accumulate, and the phytyl-diphosphate content is strongly decreased in vte6 leaves. Phytol feeding ... A candidate for the phytyl-phosphate kinase from Arabidopsis thaliana (At1g78620) was identified via a phylogeny-based approach ... Therefore, VTE6 represents the missing phytyl-phosphate kinase, linking phytol release from chlorophyll with tocopherol ...
Evidence for the role of oxidative stress in the acetylation of histone H3 by ethanol in rat hepatocytes. - Semantic Scholar
... reduced nicotinamide adenine dinucleotide phosphate) oxidase inhibitor apocynin, significantly reduced ethanol (50 mM, 24 h) ... Carbamoyl-Phosphate Synthase I Deficiency Disease. *Histone H3. 22 Citations. 0 References ... from Cashew Nuts Prevent Behavioral Changes and Oxidative Stress Induced by Rotenone in a Rat Model of Parkinsons Disease. * ...
CPS1NAGSHepaticUrea cycle diMETABOLICMutationsCitrullineActivatorGeneCarbamyl phosphate synthetaseAcyl-CoA dehydrogenase deficiOMIMCitrullinemiaAutosomal recessiveGenesAmmonia to accumulate in the bCitrin DeficiencyMetabolismDehydrogenase DeficiencyHuman carbamoylPropionyl-CoA carboxyKinaseSymptomsArgininosuccinate synthetaseOrnithine CarbamoNeonatalGlucoseLiverLyaseClinicalHomocystinuriaSeizuresEnzymesArgininosuccinic acidPathophysiologyGeneticMeSHCarglumic acidGlycogen StoragePathwaySynthesisHyperammonemia DueUCDsArginase deficiencyDisorderEnzyme deficiency
CPS110
- Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. (medlineplus.gov)
- Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. (medlineplus.gov)
- Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease. (nih.gov)
- Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. (bvsalud.org)
- Findings support the disease-causing role of the mutations reported to affect the CPS1 deficiency, revealing a key role of the small CPS1 domain of unknown function (UFSD) for proper enzyme folding. (nih.gov)
- A handful also test for OTC and CPS1 deficiencies. (webmd.com)
- Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. (abcam.com)
- Note=Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. (abcam.com)
- Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. (uzh.ch)
- Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. (uzh.ch)
NAGS13
- Normal enzyme function of N -acetylglutamate synthetase (NAGS) deficiency is confined to the hepatic mitochondria and mediates the reaction acetyl-coenzyme A (CoA) + glutamate → N -acetylglutamate + CoA. (medscape.com)
- Clinical signs and symptoms of NAGS deficiency occur when ammonia fails to fix into carbamoyl phosphate (CP) effectively, thus disabling the urea cycle. (medscape.com)
- remarkably, not a single case of NAGS deficiency was identified. (medscape.com)
- [ 3 ] However, because NAG is the requisite activator for CPS, occasional mistaken diagnoses of CPS deficiency may have obscured cases of NAGS deficiency. (medscape.com)
- A series of adult cases of NAGS deficiency has been reported, suggesting that some mutations may result in milder clinical variants while complicating accurate diagnosis in children and teens. (medscape.com)
- NAGS deficiency is associated with significant morbidity and mortality. (medscape.com)
- Studies suggest that the underlying cause of the hyperammonemia is the inhibition of N -acetylglutamate synthase (NAGS) activity by free propionic acid. (medscape.com)
- 1 NAGS deficiency, the rarest of the UCDs, is an autosomal recessive disorder. (carbaglu.net)
- NAGS deficiency is the only inherited urea cycle disorder that can be specifically and effectively treated by a drug. (carbaglu.net)
- The biochemical urea cycle pathway involves 5 catalytic enzmes and a cofactor producing enzyme: N-acetylglutamate synthase (NAGS), as well as 2 transporters: ornithase translocase and citrin. (carbaglu.net)
- thus, a deficiency of NAGS may result in hyperammonemia. (carbaglu.net)
- Caldovic L, Morizono H, Tuchman M. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. (carbaglu.net)
- Adjunctive therapy in pediatric and adult patients for the treatment of acute hyperammonemia due to the deficiency of the hepatic enzyme N-acetylglutamate synthase (NAGS). (carbaglu.net)
Hepatic4
- The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (bvsalud.org)
- Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity. (ucdenver.edu)
- Hepatic encephalopathy (HE) - The most important, and far and away the most common cause of hyperammonemia that we will see in the ED is caused by liver disease. (epmonthly.com)
- Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. (uzh.ch)
Urea cycle di3
- 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. (umassmed.edu)
- ASA is a rare genetic urea cycle disorder characterised by deficiency or lack of the enzyme argininosuccinate lyase (ASL), which is central to two metabolic pathways: the liver-based urea cycle, which detoxifies ammonia and the citrulline-nitric oxide cycle, which synthesises nitric oxide from L-arginine. (thefreedictionary.com)
- Ornithine translocase deficiency , also called Hyperonithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome , [1] is a rare autosomal recessive [2] urea cycle disorder affecting the enzyme ornithine translocase , which causes ammonia to accumulate in the blood, a condition called hyperammonemia . (wikidoc.org)
METABOLIC15
- Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). (harvard.edu)
- Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction. (intechopen.com)
- As a downstream consequence of the residual or full loss of the enzymatic activity, there is an accumulation of toxic metabolites in the proximity of the metabolic block and/or a deficiency of an essential metabolic product which leads to the clinical presentation of the disease. (intechopen.com)
- Categorization of IEM can be simply made on the basis of the affected metabolic network: fatty acids oxidation disorders, protein/amino acids metabolism disorders, disorders of carbohydrate metabolism, lysosomal storage diseases, peroxisomal disorders, and mitochondrial diseases. (intechopen.com)
- In humans, uracil is involved in the metabolic disorder called ump synthase deficiency (orotic aciduria). (hmdb.ca)
- uracil has also been linked to the inborn metabolic disorder carbamoyl phosphate synthetase deficiency. (hmdb.ca)
- Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders . (wikidoc.org)
- For a thorough scientific overview of hyperornithinemias, one can consult chapter 83 of The Online Metabolic and Molecular Bases of Inherited Disease . (wikidoc.org)
- Professor Tanaka is considered a pioneer in the use of gas-liquid chromatography and nuclear magnetic resonance in the identification of inherited metabolic diseases. (dipharma.ch)
- Newborns with UCDs typically appear normal at birth and shortly after can present with nonspecific signs and symptoms similar to many metabolic diseases or even an infection, i.e., lethargy, poor appetite, vomiting, and irritability. (dipharma.ch)
- Type 2 diabetes is a complex metabolic disease with an environmental and genetic component affecting ≥5% of the population in Western societies. (diabetesjournals.org)
- It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. (expasy.org)
- Journal of Inherited Metabolic Disease, 38(5):815-827. (uzh.ch)
- 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 diagnostic algorithm for urea cycle disorders must consider the total metabolic pathway and the specific enzyme deficiencies leading to characteristic substrate elevation. (renalandurologynews.com)
Mutations9
- 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)
- Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. (harvard.edu)
- OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. (harvard.edu)
- Mutations in the SLC25A15 gene cause ornithine translocase deficiency. (wikidoc.org)
- 9711878 }. Note=The disease is caused by mutations affecting the gene represented in this entry. (expasy.org)
- Mutations in the CPT2 gene cause carnitine palmitoyltransferase II deficiency, leading to the production of a defective version of an enzyme called carnitine palmitoyltransferase II. (chemeurope.com)
- Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. (uzh.ch)
- Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations. (uzh.ch)
- i)Plausible disease-causing mutations: Recurrent de novo mutations convincingly affecting gene function. (genomicsengland.co.uk)
Citrulline3
- Flow of nitrogen from ambto acid Formation of citrulline: Carbamoyl phosphate synthase II is a cytosolic enzyme used for pyrimidine synthesis. (homeranking.info)
- Patients with OTC cannot convert carbamoyl phosphate and ornithine into citrulline in the urea cycle. (thecardiologyadvisor.com)
- Citrulline level is normal in arginine deficiency and is markedly elevated in argininosuccinic lyase deficiency, usually 100 times the upper limit of the normal range. (renalandurologynews.com)
Activator5
- The normal function of N -acetylglutamate (NAG), the reaction product, is to act as an activator of carbamyl phosphate synthetase (CPS), which is also a mitochondrial enzyme. (medscape.com)
- The 6th one is N- acetylglutamate that acts as allosteric activator of carbamoyl phosphate synthase I. Arginine ': Then urea is transported by the blood to. (homeranking.info)
- Since N -acetylglutamate (NAG) is the allosteric activator of carbamoylphosphate synthase, the entry step into the urea cycle, decreased ureagenesis occurs with accumulation of free ammonia. (medscape.com)
- This cofactor N-acetyl glutamate is the essential activator of carbamoyl phosphate synthetase I (CPS-I), synthesized in the liver mitochondria, and the first and rate-limiting enzyme of the urea cycle. (dipharma.ch)
- Carglumic acid is a structural analogue of N-acetylglutamate, which is the naturally occurring activator of carbamoyl phosphate synthetase, the first enzyme of the urea cycle. (medscape.com)
Gene17
- The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. (nih.gov)
- 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)
- Therefore, CF is considered an autosomal recessive gene disease. (newworldencyclopedia.org)
- With most UCDs, you must get a defective gene from both parents to get the disease. (webmd.com)
- We show that GNMT harbors genetic and epigenetic differences that influence gene function, which may have downstream effects on the epigenome of the cell, affecting disease risk. (prolekare.cz)
- A gene on chromosome 2q35 that encodes a mitochondrial enzyme which catalyses synthesis of carbamoyl phosphate from ammonia and bicarbonate, a reaction that is the first committed step of the urea cycle and important in removing excess ammonia from cells. (thefreedictionary.com)
- The ASS1 gene provides instructions for making argininosuccinate synthase 1, which is responsible for the third step of the urea cycle. (thefreedictionary.com)
- The CBS enzyme is located on the long arm of chromosome 21 (21q22.3) and the mutation of the CBS gene may result in reduced activity of cystathionine beta-synthase resulting in classical homocystinuria. (medicalbiochemist.com)
- Detection of the CAD-ALK gene fusion in urine tr-DNA anticipated radiological confirmation of disease progression. (anticorps-enligne.fr)
- HMGCS2 is the gene associated with HMG-CoA synthase deficiency. (invitae.com)
- Such diseases are caused by an error in a single DNA gene. (wikipedia.org)
- Because the disease is autosomal, the defective gene is found on an autosome ( chromosome 6 ), rather than the sex-linked 23rd chromosome. (wikipedia.org)
- Being a recessive disorder, the disease can only be inherited from both parents since the disorder can only occur when a person has two copies of the gene. (wikipedia.org)
- It is believed that the genetic basis for SSADH deficiency resides in the SSADH human ALDH5A1 gene which maps to chromosome 6p22. (wikipedia.org)
- 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)
- Genes included in a Genomics England gene panel for a rare disease category (green list) should fit the criteria A-E outlined below. (genomicsengland.co.uk)
- 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)
Carbamyl phosphate synthetase3
- Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. (naver.com)
- this results in failure to activate the enzyme responsible for the reaction NH 4 + + CO 2 + ATP → H 2 N-CO-PO 3 2- + ADP, which is the entry step into the urea cycle (see Carbamyl Phosphate Synthetase Deficiency ). (medscape.com)
- These include ornithine transcarbamylase deficiency, carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency and arginase deficiency. (oncologynurseadvisor.com)
Acyl-CoA dehydrogenase defici3
- Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. (harvard.edu)
- Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. (harvard.edu)
- A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. (harvard.edu)
OMIM1
- For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym. (expasy.org)
Citrullinemia1
- Citrullinemia Type I (Deficiency of argininosuccinic acid synthase) is identified. (dipharma.ch)
Autosomal recessive5
- Most of the glycogen storage diseases follow an autosomal recessive mode of inheritence. (wikidoc.org)
- Ornithine translocase deficiency has an autosomal recessive pattern of inheritance. (wikidoc.org)
- Succinic semialdehyde dehydrogenase deficiency ( SSADHD ), also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikipedia.org)
- Succinic semialdehyde dehydrogenase deficiency has an autosomal recessive pattern of inheritance. (wikipedia.org)
- SSADH deficiency is inherited in an autosomal recessive fashion. (wikipedia.org)
Genes5
- Parents pass these diseases down to their children through defective genes. (webmd.com)
- In addition to the primary panel, clinicians can also choose to include DECR1 and NADK2, two genes that have preliminary evidence of association with 2,4-Dienoyl-CoA reductase deficiency. (invitae.com)
- At this time, the association of DECR1 and NADK2 with 2,4-Dienoyl-CoA reductase deficiency remains uncertain, but some clinicians may wish to include genes that may prove to be clinically significant in the future. (invitae.com)
- GAMT , GATM , and SLC6A8 are the 3 genes associated with cerebral creatine deficiency. (invitae.com)
- These genes are associated with pediatric forms of neuronal ceroid lipofuscinosis, also known as Batten disease. (invitae.com)
Ammonia to accumulate in the b3
- Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). (medlineplus.gov)
- Carbamoyl-phosphate synthase-1 deficiency is one of the inherited disorders known as 'urea cycle disorders', which cause ammonia to accumulate in the blood. (europa.eu)
- Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). (cdc.gov)
Citrin Deficiency1
- Citrin deficiency: A treatable cause of acute psychosis in adults. (uzh.ch)
Metabolism11
- PA is caused by a deficiency of propionyl-CoA carboxylase (encoded by PCCA and PCCB ), and isolated MMA is either caused by a deficiency of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase or by a defect in the metabolism of the cofactor of methylmalonyl-CoA mutase, 5′-deoxyadenosylcobalamin (encoded by MUT, MCEE, MMAA, MMAB or MMADHC , respectively). (biomedcentral.com)
- Amino acids disorders (also called aminoacidopathies) are a group of inborn errors of metabolism diseases, caused by the inherited defects in pathways involved in amino acids metabolism. (intechopen.com)
- Dried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis. (biomedcentral.com)
- Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. (biomedcentral.com)
- Formation of carbamoyl phosphate: Aspartate 1 F. Oraby's illustrated reviews of biochemistry 20 B. Carbon atom: Protein metabolism 21 N. (homeranking.info)
- Overview of pyrimidine metabolism and related diseases. (wikipathways.org)
- Glycogen storage diseases are several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles , liver , and other cell types. (wikidoc.org)
- [2] Majority of glycogen storage diseases are due to deficiency of specific enzymes involved in metabolism of glycogen either in liver or muscle or both. (wikidoc.org)
- Homocystinuria is an inherited disorder primarily caused by a deficiency of enzymes of methionine metabolism which lead to accumulation and excretion of homocystine in the urine. (medicalbiochemist.com)
- Because of these observations, the disease was given the name ketotic hyperglycinemia, a phenomenological term that inadvertently drew investigators' efforts toward a defect in glycine metabolism and delayed elucidation of the biochemical basis. (medscape.com)
- Ornithine transcarbamylase deficiency (also known as OTC) is an inherited disorder of urea cycle metabolism. (thecardiologyadvisor.com)
Dehydrogenase Deficiency4
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
- This graph shows the total number of publications written about "Multiple Acyl Coenzyme A Dehydrogenase Deficiency" by people in Harvard Catalyst Profiles by year, and whether "Multiple Acyl Coenzyme A Dehydrogenase Deficiency" was a major or minor topic of these publication. (harvard.edu)
- Below are the most recent publications written about "Multiple Acyl Coenzyme A Dehydrogenase Deficiency" by people in Profiles. (harvard.edu)
- carbonic anhydrase deficiency (CA5A), glutamate dehydrogenase deficiency (GLUD1), glutamine synthetase deficiency ( GLUL ), and lysinuric protein intolerance (SLC7A7). (invitae.com)
Human carbamoyl2
- Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis. (nih.gov)
- Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. (expasy.org)
Propionyl-CoA carboxy1
- Subsequent work led to further delineation of another disorder, initially called multiple carboxylase deficiency, which includes deficiency of propionyl CoA carboxylase activity in addition to defects in other carboxylases. (medscape.com)
Kinase2
- A candidate for the phytyl-phosphate kinase from Arabidopsis thaliana (At1g78620) was identified via a phylogeny-based approach. (semanticscholar.org)
- Downstream PI 3-kinase, activation of Akt, glycogen synthase kinase (GSK)-3 (α and β isoforms), Foxo1, and atypical protein kinase C were blunted in insulin-stimulated IRS-2 −/− cells. (diabetesjournals.org)
Symptoms19
- In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life. (medlineplus.gov)
- Ammonia is especially damaging to the brain, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency. (medlineplus.gov)
- Symptoms of the disease usually appear in the first few days of life and include lethargy (lack of energy), vomiting, loss of appetite, seizures (fits) and coma. (europa.eu)
- When the medicine is injected repeatedly into the portal vein (the vein leading to the liver) of patients with carbamoyl-phosphate synthase-1 deficiency, some of the liver cells it contains are expected to settle in the recipient's liver and start producing the missing liver enzyme, thus helping to alleviate the symptoms of the disease. (europa.eu)
- See detailed information below for a list of 1644 causes of Liver symptoms , Symptom Checker , Assessment Questionnaire , including diseases and drug side effect causes. (rightdiagnosis.com)
- Many new treatments are being introduced for easing the symptoms of CF and increasing the life expectancy of a person with the disease, which are discussed below. (newworldencyclopedia.org)
- Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood. (cdc.gov)
- Less frequently, symptoms of OTC deficiency begin later in life (the late-onset form) and are less severe. (cdc.gov)
- Most commonly, symptoms of OTC deficiency begin in infancy (the early-onset form). (cdc.gov)
- In some people with OTC deficiency, signs and symptoms are less severe and do not begin until later in life (the late-onset form). (cdc.gov)
- This table lists symptoms that people with this disease may have. (cdc.gov)
- For most diseases, symptoms will vary from person to person. (cdc.gov)
- People with the same disease may not have all the symptoms listed. (cdc.gov)
- Do you have more information about symptoms of this disease? (cdc.gov)
- These combined factors lead to the signs and symptoms of Tangier disease. (bionity.com)
- In most affected individuals, signs and symptoms of ornithine translocase deficiency do not appear until later in life. (wikidoc.org)
- This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency. (wikidoc.org)
- Individuals with OTC deficiency will exhibit symptoms similar to other urea cycle disorders with hyperammonemia. (thecardiologyadvisor.com)
- The symptoms of SSADH deficiency fall into three primary categories: neurological, psychiatric, and ocular . (wikipedia.org)
Argininosuccinate synthetase3
- Wildemann, "Inducible nitric oxide synthase and argininosuccinate synthetase: co-induction in brain tissue of patients with Alzheimer's dementia and following stimulation with [beta]-amyloid 1-42 in vitro," Neuroscience Letters, vol. (thefreedictionary.com)
- Neuronal and glial coexpression of argininosuccinate synthetase and inducible nitric oxide synthase in Alzheimer disease. (thefreedictionary.com)
- Ravicti is indicated for use as adjunctive therapy for chronic management of adult and paediatric patients ≥2 months of age with urea cycle disorders (UCDs) including deficiencies of carbamoyl phosphate-synthase-I (CPS), ornithine carbamoyltransferase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL), arginase I (ARG) and ornithine translocase deficiency hyperornithinaemia-hyperammonaemia homocitrullinuria syndrome (HHH) who cannot be managed by dietary protein restriction and/or amino acid supplementation alone. (europa.eu)
Ornithine Carbamo1
- Below are the most recent publications written about "Ornithine Carbamoyltransferase Deficiency Disease" by people in Profiles. (umassmed.edu)
Neonatal2
Glucose4
- [1] Glucose-6-phosphatase deficiency found in glycogen storage disease type I is identified as first specific enzymopathy in a hereditary disorder . (wikidoc.org)
- The enzyme Glycogen synthase catalyzes the addition of glucose molecules at the nonreducing end of core glycogen molecule In this reaction, an activated UDP-glucose molecule forms 1-4 glycosidic linkage with existing glucose moiety of glycogen molecule and free UDP is liberated. (medicalbiochemist.com)
- Figure 2: Glycogen Synthase-addition of glucose from UDP-glucose to core glycogen molecules. (medicalbiochemist.com)
- Endothelial nitric oxide synthase (eNOS) dysfunction induces insulin resistance and glucose intolerance. (diabetesjournals.org)
Liver16
- On 17 December 2010, orphan designation (EU/3/10/821) was granted by the European Commission to Cytonet GmbH & Co. KG, Germany, for human heterologous liver cells (for infusion) for the treatment of carbamoyl-phosphate synthase-1 deficiency. (europa.eu)
- Patients with carbamoyl-phosphate synthase-1 deficiency lack 'carbamoyl-phosphate synthase', one of the liver enzymes that are needed to get rid of excess nitrogen. (europa.eu)
- The sponsor has provided sufficient information to show that human heterologous liver cells (for infusion) might be of significant benefit for patients with carbamoyl-phosphate synthase-1 deficiency because it works in a different way to existing treatment and early studies indicate that it might improve the treatment of patients with this condition. (europa.eu)
- Digestive and Liver Disease. (elsevier.com)
- WITHDRAWN: Epigenetics in Chronic Liver Disease. (semanticscholar.org)
- When not treated, the disease can lead to development delay, intellectual disability , and liver damage. (cdc.gov)
- The liver mitochondrial enzymes ornithine transcarbamylase and carbamyl phosphate synthetase I catalyze the first two steps in the Krebs-Henseleit pathway from ammonia to of either of these enzymes has been associated with severe and sometimes fatal hyperammonemia in infancy and childhood, but liver histology has usually been described as normal. (naver.com)
- Liver diseases in infancy and childhood. (naver.com)
- Other signs of this condition may include an enlarged spleen (splenomegaly), an enlarged liver ( hepatomegaly ), clouding of the cornea , and early-onset cardiovascular disease. (bionity.com)
- The most common inherited enzyme deficiency are: Collaterals between portal and systemic circulation due to cirrhosis of liver by bilharziasis. (homeranking.info)
- Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency," Stem Cell Research & Therapy, vol. (thefreedictionary.com)
- These cells maintained the expression of the differentiated liver markers albumin and carbamoyl phosphate synthetase, as well as bear a high number of IRs. (diabetesjournals.org)
- These results have been assessed by other groups and, taken together, suggest that IRS-2 can compensate IRS-1 deficiency more effectively in liver and β-cells than in muscle or adipose tissues ( 12 , 13 ). (diabetesjournals.org)
- Instead, we more often come across ammonia when it manifests its neurotoxic properties in patients with liver disease. (epmonthly.com)
- It can also occur in acute liver failure, such as following acetaminophen overdose, or in Wilson's disease. (epmonthly.com)
- Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems. (chemeurope.com)
Lyase3
- Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) is identified. (dipharma.ch)
- Argininosuccinic acid in plasma and urine permits the specific diagnosis of Argininosuccinic lyase deficiency. (renalandurologynews.com)
- Newborn screening in all 50 states applies tandem mass spectrometry to detect argininosuccinate lyase deficiency allowing for presymptomatic detection. (renalandurologynews.com)
Clinical8
- Because the clinical presentation is indistinguishable from that of CPS deficiency and because the diagnosis is difficult, the true incidence may be underestimated. (medscape.com)
- There are a wide variety of clinical manifestations of glycogen storage diseases. (wikidoc.org)
- In 1961, Childs et al published the earliest clinical report of a patient who was ultimately found to be affected by a deficiency of propionyl coenzyme A (CoA) carboxylase (ie, propionic acidemia). (medscape.com)
- The clinical hallmark of the disease is severe ketoacidosis of an episodic nature. (medscape.com)
- thus, although the condition had been previously considered a single disorder, it was subsequently recognized on clinical grounds to be composed of least 2 different diseases. (medscape.com)
- Carnitine deficiency can precipitate a clinical episode by disruption of the balance. (medscape.com)
- Supplementation of BH 4 can improve endothelial dysfunction by elevating the BH 4 -to-BH 2 ratio, leading to recoupling of eNOS, and has been used in clinical trials with patients with atherosclerotic diseases for the expected vasodilatation effects of BH 4 through NO production ( 15 ). (diabetesjournals.org)
- Carrier (or heterozygote) females will have a 50% chance of transmitting this mutation to each son who would be clinically affected and a 50% chance of transmitting this mutation to each daughter who would also have a 15% chance of clinical disease. (thecardiologyadvisor.com)
Homocystinuria1
- Defective enzymes of this pathway or deficiency of co-factors or enzymes that are involved in the recycling of the co-factors lead to elevated blood homocysteine and homocystinuria. (medicalbiochemist.com)
Seizures4
- In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. (medlineplus.gov)
- Some babies with OTC deficiency experience seizures , unusual body movements, or go into a coma . (cdc.gov)
- This study showed that CAD deficiency co-occurrence of anaemia, anisopoikilocytosis, global developmental delay, and seizures. (anticorps-enligne.fr)
- Over half of the patients with SSADH deficiency have seizures. (wikipedia.org)
Enzymes3
- Uracil's use in the body is to help carry out the synthesis of many enzymes necessary for cell function through bonding with riboses and phosphates. (hmdb.ca)
- Orphan designation of glyceryl tri-(4-phenylbutyrate) had been granted in the United States of America for the maintenance treatment of patients with deficiencies in enzymes of the urea cycle. (europa.eu)
- It relies on a number of enzymes that you may recall from medical school, such as ornithine transcarbamylase and carbamoyl phosphate synthase. (epmonthly.com)
Argininosuccinic acid1
- The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (renalandurologynews.com)
Pathophysiology1
- Ah Mew N, Caldovic L. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (carbaglu.net)
Genetic5
- Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. (medlineplus.gov)
- it the most common genetic disease among such people. (newworldencyclopedia.org)
- OTC deficiency belongs to a group of genetic diseases that affect the urea cycle ( urea cycle disorders ). (cdc.gov)
- March 19, 2010 - The US Food and Drug Administration (FDA) has approved carglumic acid dispersible tablets ( Carbaglu , Orphan Europe, a Recordati company) for treatment of a rare genetic disoder N-acetylglutamate synthase deficiency, which causes hyperammonemia. (medscape.com)
- This deficiency is a rare autosomal genetic disorder characterized by extremely high ammonia plasma levels that can cause permanent and irreversible central nervous system damage. (medscape.com)
MeSH1
- Mitochondrial Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ucdenver.edu)
Carglumic acid1
- As with all approved products, the FDA will continue to monitor the safety of carglumic acid for treating N-acetylglutamate synthase-related hyperammonemia. (medscape.com)
Glycogen Storage2
- A total of fourteen glycogen storage diseases have been described which differ from each other on the basis of genotypic and phenotypic heterogenity. (wikidoc.org)
- There are nine diseases that are commonly considered to be glycogen storage diseases. (chemeurope.com)
Pathway1
- However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. (wikipedia.org)
Synthesis1
- Phytol from chlorophyll degradation can be phosphorylated to phytyl-phosphate and phytyl-diphosphate, the substrate for tocopherol (vitamin E) synthesis. (semanticscholar.org)
Hyperammonemia Due1
- Hyperammonemia type I. Inherited hyperammonemia: Due to deficiency of arginase. (homeranking.info)
UCDs1
- Urea cycle disorders (UCDs) are a group of diseases. (webmd.com)
Arginase deficiency1
- CIT2), argininosuccinic acidemia (ASA), and arginase deficiency (ARG). (thecardiologyadvisor.com)
Disorder4
- Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol ," in the bloodstream. (bionity.com)
- Tangier disease is a rare disorder with approximately 50 cases identified worldwide. (bionity.com)
- One UCD, called ornithine transcarbamylase (OTC) deficiency, is what doctors call a sex-linked disorder. (webmd.com)
- The disorder was originally called ketotic hyperglycinemia because of the elevations of plasma glycine in conjunction with ketosis.The real cause of the disease was identified 8 years later when studying data from the original patient's sister, that showed accumulation of propionic acid and methylmalonic acid. (dipharma.ch)
Enzyme deficiency1
- SSADH deficiency is caused by an enzyme deficiency in GABA degradation. (wikipedia.org)