Sulfite Oxidase

Metabolism, Inborn Errors

Cerebrospinal Fluid

Uric Acid

Sulfite Reductase (Ferredoxin)

Oxidoreductases Acting on Sulfur Group Donors

Protein Disulfide Reductase (Glutathione)

Propionic Acidemia

Hyperammonemia

Methylmalonyl-CoA Decarboxylase

Nutrition Therapy

Propionates

Amino Acid Metabolism, Inborn Errors

Carbamoyl-Phosphate Synthase (Ammonia)

Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)

Hepatic Veno-Occlusive Disease

Persistent Fetal Circulation Syndrome

Carbamyl Phosphate

Dihydroorotase

Bone Marrow Transplantation

Fatty Acids

Dental Occlusion, Centric

Thrombomodulin

Genome, Bacterial

Genome

ADAM Proteins

Genome, Viral

Osteonectin

Sequence Analysis, DNA

Methylmalonic Acid

Diabetic Ketoacidosis

Methylmalonyl-CoA Mutase

Hyperaldosteronism

Malonates

Cystic Fibrosis

Life Expectancy

Encyclopedias as Topic

Cystic Fibrosis Transmembrane Conductance Regulator

Fibrosis

Digestive System Neoplasms

Mucus

Ammonia

Vancomycin clearance during continuous venovenous haemofiltration in critically ill patients | Read by QxMD

Definition for deficiency disease

List of Sources of Nutrients and Deficiency Diseases - Static GK

What is deficiency diseases?

ACAD8 deficiency - Diseases and Condition - 71

RNase Enzyme Deficiency Disease: Wilbers statement about his health

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Combined immunological deficiency disease | Article about combined immunological deficiency disease by The Free Dictionary

BEAUTY OF WILDLIFE: Deficiency Diseases VITAMIN Bi DEFICIENCY

C6 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Mineral deficiency diseases - Foods rich in minerals | WikBio

Quiz on Vitamin Deficiency Diseases - TriviaBug

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Quote, Unquote : Valerie Solanas

Possible treatment of end-stage hyperammonemic encephalopathy by inhibition of glutamine synthetase. | Docphin

Life on Maple Grove : What Causes a Low Immune System?

Genetic Cause Of Primary Immune Deficiency Disease Identified | Medical Wiki - Medical Jobs, Careers And Information

Deficiency diseases, particularly acetonaemia in cattle | Veterinary Record

Mannosidase Deficiency Diseases | CTD

Forrest Mounts

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Plus it

Article abstract | American Journal of Case Reports

PAKISTAN POULTRY,LIVESTOCK AND CAGE BIRDS: Deficiency Diseases VITAMIN B2 DEFICIENCY

Nutrition and Deficiency - Static GK Notes !

Niacin | DrDobbin Nutrition

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Studies in Deficiency Disease - McCarrison

Protein C Deficiency | Diseases & Conditions | 5MinuteConsult

Potassium Phenylacetate 13005-36-2 H-NMR | C-NMR Spectral Analysis NMR Spectrum

methyl (2S)-2-acetamido-2-phenylacetate 36060-84-1 H-NMR | C-NMR Spectral Analysis NMR Spectrum

Immune System Problem - AGING REVERSAL LAB

Welcome to the Interdome: 2008

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Abolitionists -- Ohio -- History -- 19th century (Concept) - Southfield Public Library

Congenital disorders of amino acid metabolism

List of MeSH codes (C10)

List of MeSH codes (C18)

Citrullinemia type I

N-Acetylglutamate synthase deficiency

Transferase

Biosynthesis

Urea cycle

Succinic semialdehyde dehydrogenase deficiency

3-Methylcrotonyl-CoA carboxylase deficiency

HADHB

Histidinemia

Phenylketonuria

Tyrosinemia type II

Aminoacyl tRNA synthetase

Ocular albinism

MT-TI

Nucleic acid metabolism

Dihydrofolate reductase

Respiratory complex I

Category:Protein pages needing a picture

List of diseases (C)

Methylmalonyl-CoA mutase deficiency

List of OMIM disorder codes

List of MeSH codes (C16)

Aminoacylase

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)

Hyperammonemia19

• Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). (medlineplus.gov)
• 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)
• Ornithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). (nih.gov)
• Deficiencies of all of the enzymes of the cycle have been described and although each specific disorder results in the accumulation of different precursors, hyperammonemia and hyperglutaminemia are common biochemical hallmarks of these disorders. (docme.ru)
• The 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)
• Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males. (naver.com)
• Hyperammonemia type I. Inherited hyperammonemia: Due to deficiency of arginase. (homeranking.info)
• Acquired hyperammonemia: Other enzyme deficiencies include: Due to deficiency of arginosuccinic acid synthase. (homeranking.info)
• Studies suggest that the underlying cause of the hyperammonemia is the inhibition of N -acetylglutamate synthase (NAGS) activity by free propionic acid. (medscape.com)
• thus, a deficiency of NAGS may result in hyperammonemia. (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)
• 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)
• All enzyme deficiencies, except ARG, may present with acute hyperammonemia. (thecardiologyadvisor.com)
• Individuals with OTC deficiency will exhibit symptoms similar to other urea cycle disorders with hyperammonemia. (thecardiologyadvisor.com)
• John M Freeman (11/01/1933-03/01/2014) reports a case of a patient with congenital hyperammonemia observing decreased levels of carbamyl phosphate synthetase. (dipharma.ch)
• 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)
• 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)
• 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)
• The enzyme deficiency leads to accumulation of argininosuccinic acid in all body fluids and progressive and severe hyperammonemia. (renalandurologynews.com)

Citrulline7

• The immunomodulatory roles of the amino acids citrulline and arginine have been characterized in the context of nutritional deficiencies in disease states such as cancer and sepsis. (checkorphan.org)
• Systemic infection may also deplete systemic citrulline and arginine, compounding an underlying deficiency in UCD. (checkorphan.org)
• Flow of nitrogen from ambto acid Formation of citrulline: Carbamoyl phosphate synthase II is a cytosolic enzyme used for pyrimidine synthesis. (homeranking.info)
• 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)
• 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)
• Ornithine combines with carbamoyl phosphate to make citrulline. (studyblue.com)

Urea cycle di2

• 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)
• NAGS deficiency is the only inherited urea cycle disorder that can be specifically and effectively treated by a drug. (carbaglu.net)

METABOLIC17

• A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding , hypothermia, metabolic acidosis, ketonuria and vomiting. (symptoma.com)
• INTRODUCTION The urea cycle disorders are a group of inborn errors of hepatic metabolism that affect the transfer of waste nitrogen into Fernando Scaglia's main research interest is the study of the molecular bases of cognitive dysfunction observed in inborn errors of metabolism, and therapy for metabolic disease. (docme.ru)
• Brendan Lee's main research interest is on genetic pathways that specify development and homeostasis, translational studies of skeletal and kidney development, and therapy for metabolic disease. (docme.ru)
• 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)
• Type 2 diabetes is a complex metabolic disease with an environmental and genetic component affecting ≥5% of the population in Western societies. (diabetesjournals.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)
• Metabolic profiling of blood samples from cohort studies is a major tool in the discovery of new disease relevant biomarkers and the metabolic individuality in the general population. (biomedcentral.com)
• Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. (uzh.ch)
• Journal of Inherited Metabolic Disease, 38(5):815-827. (uzh.ch)
• 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)

NAGS9

• 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)
• 1 NAGS deficiency, the rarest of the UCDs, is an autosomal recessive disorder. (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)
• Caldovic L, Morizono H, Tuchman M. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. (carbaglu.net)

Gene22

• The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. (nih.gov)
• Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation. (nih.gov)
• 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)
• Mutations in the SLC25A15 gene cause ornithine translocase deficiency. (wikidoc.org)
• In addition to the primary panel, clinicians can also choose to include NADK2, a gene that has preliminary evidence of association with 2,4-Dienoyl-CoA reductase deficiency. (invitae.com)
• HMGCS2 is the gene associated with HMG-CoA synthase deficiency. (invitae.com)
• Detection of the CAD-ALK gene fusion in urine tr-DNA anticipated radiological confirmation of disease progression. (anticorps-enligne.fr)
• 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)
• 9711878 }. Note=The disease is caused by mutations affecting the gene represented in this entry. (expasy.org)
• Mutations in the PC gene cause pyruvate carboxylase deficiency. (chemeurope.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)
• i)Plausible disease-causing mutations: Recurrent de novo mutations convincingly affecting gene function. (genomicsengland.co.uk)

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)

Mutations3

• OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. (harvard.edu)
• 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)

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)

Orotic aciduria1

• orotic aciduria because excess carbamoyl phosphate is shunted into the UMP synthetic pathway in which orotic acid is an intermediate. (medbullets.com)

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)

Ammonia to accumulate in the b1

• 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)

Symptoms25

• 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)
• Severe OTC deficiency (the early-onset form) typically affects males (and rarely females) and causes symptoms in the newborn period or early childhood. (nih.gov)
• Less frequently, symptoms of OTC deficiency begin later in life (the late-onset form) and are less severe. (nih.gov)
• Most commonly, symptoms of OTC deficiency begin in infancy (the early-onset form). (nih.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). (nih.gov)
• This table lists symptoms that people with this disease may have. (nih.gov)
• For most diseases, symptoms will vary from person to person. (nih.gov)
• People with the same disease may not have all the symptoms listed. (nih.gov)
• Do you have more information about symptoms of this disease? (nih.gov)
• 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)
• An exacerbation of symptoms may be triggered by situations inducing a catabolic state, e.g., by infectious disease, surgery or other forms of stress . (symptoma.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)
• These combined factors lead to the signs and symptoms of Tangier disease. (bionity.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)
• 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)
• Get information to understand an inherited disease or uncover the cause of unexplained symptoms. (invitae.com)
• The symptoms of SSADH deficiency fall into three primary categories: neurological, psychiatric, and ocular . (wikipedia.org)
• Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. (chemeurope.com)
• Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. (chemeurope.com)
• The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. (nutritionequity.org)
• Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. (nutritionequity.org)

Genes4

• Parents pass these diseases down to their children through defective genes. (webmd.com)
• The study objectives will be to describe the nutritional and immune deficiencies seen, query for nutrition/enzymatic/immunologic correlations in this patient population, describe vaccine efficacy in this patient population, and search for new genes in rare families that have evidence for an unknown class of UCD. (checkorphan.org)
• At this time, the association of 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)

Metabolism12

• 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)
• 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)
• Protein energy malnutrition, essential fatty acid deficiencies and micronutrient deficiencies due to restrictive dietary management have been reported in various inborn errors of metabolism. (checkorphan.org)
• Overall, general and specific nutritional deficiencies and enzymopathies affecting leukocyte metabolism may potentially affect vaccine efficacy. (checkorphan.org)
• 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)
• 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)
• 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)
• 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)

OMIM1

• For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym. (expasy.org)

Aspartate4

• Cit is transported out from mitochondrion and bound to aspartate by argininosuccinate synthase, and aspartate is provided by the mitochondrial transporter citrin. (thefreedictionary.com)
• Chez www.anticorps-enligne.fr sont 119 Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, and Dihydroorotase (CAD) Anticorps de 23 de différents fournisseurs disponibles. (anticorps-enligne.fr)
• De plus, nous expédions Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, and Dihydroorotase Kits (6) et beaucoup plus de produits pour cette protéine. (anticorps-enligne.fr)
• Un total de 138 Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, and Dihydroorotase produits sont actuellement listés. (anticorps-enligne.fr)

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)

Pathway3

• A favorable outcome can be achieved if dietary treatment and alternative pathway therapy are instituted early in the disease course. (docme.ru)
• 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)
• 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)

Genetic4

• Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. (medlineplus.gov)
• OTC deficiency belongs to a group of genetic diseases that affect the urea cycle ( urea cycle disorders ). (nih.gov)
• it the most common genetic disease among such people. (newworldencyclopedia.org)
• 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)

Inheritance1

• Evidence for X-linked dominant inheritance of ornithine transcarbamylase deficiency. (naver.com)

Citrullinemia1

• Citrullinemia Type I (Deficiency of argininosuccinic acid synthase) is identified. (dipharma.ch)

Pyridoxal2

• PNPO is associated with pyridoxal 5'-phosphate-dependent epilepsy. (invitae.com)
• 6. On the ground of clinical presentations a patient was prescribed pyridoxal phosphate. (krushkrok.com)

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)

Liver11

• 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)
• When not treated, the disease can lead to development delay, intellectual disability , and liver damage. (nih.gov)
• WITHDRAWN: Epigenetics in Chronic Liver Disease. (semanticscholar.org)
• 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)

Lyase4

• 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)
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. (nutritionequity.org)

Glycogen synthase2

• 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)

Disorder9

• Deficiencies of all of the enzymes of the urea cycle have been identified, and although each specific disorder results in accumulation of different metabolites, they (except for hyperargininemia) usually present in the newborn period or in early infancy with hyperammonemic encephalopathy and hyperglutaminemia [Batshaw et al. (docme.ru)
• 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)
• [1] Glucose-6-phosphatase deficiency found in glycogen storage disease type I is identified as first specific enzymopathy in a hereditary disorder . (wikidoc.org)
• 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)
• 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)
• Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. (chemeurope.com)
• 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an inherited disorder in which the body is unable to process certain proteins properly. (nutritionequity.org)

Defects2

• Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. (hindawi.com)
• Large molecule diseases cover defects in glycosylation, lysosomal and peroxisomal function, and leukodystrophies. (hindawi.com)

Enzymes2

• 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)

Seizures3

• Some babies with OTC deficiency experience seizures , unusual body movements, or go into a coma . (nih.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)

Pathophysiology1

• Ah Mew N, Caldovic L. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (carbaglu.net)

Synthesis1

• Phytol from chlorophyll degradation can be phosphorylated to phytyl-phosphate and phytyl-diphosphate, the substrate for tocopherol (vitamin E) synthesis. (semanticscholar.org)

UCDs1

• Urea cycle disorders (UCDs) are a group of diseases. (webmd.com)

Arginase deficiency1

• CIT2), argininosuccinic acidemia (ASA), and arginase deficiency (ARG). (thecardiologyadvisor.com)

Dehydrogenase Deficiency1

• Below are the most recent publications written about "Multiple Acyl Coenzyme A Dehydrogenase Deficiency" by people in Profiles. (ucdenver.edu)

Clinical10

• The clinical course may be similar to LEIGH DISEASE. (harvard.edu)
• Clinical biochemical and molecular spectrum of hyperargininemia due to arginase I deficiency. (docme.ru)
• American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 142C:113 - 120 (2006) A R T I C L E Clinical, Biochemical, and Molecular Spectrum of Hyperargininemia Due to Arginase I Deficiency FERNANDO SCAGLIA* AND BRENDAN LEE The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. (docme.ru)
• 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)
• 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)

Mitochondria1

• Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). (hindawi.com)

Pyruvate carboxylas7

• Pyruvate Carboxylase Deficiency Disease" 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 "Pyruvate Carboxylase Deficiency Disease" by people in Harvard Catalyst Profiles by year, and whether "Pyruvate Carboxylase Deficiency Disease" was a major or minor topic of these publication. (harvard.edu)
• Below are the most recent publications written about "Pyruvate Carboxylase Deficiency Disease" by people in Profiles. (harvard.edu)
• Stern HJ, Nayar R, Depalma L, Rifai N. Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. (harvard.edu)
• Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. (chemeurope.com)
• Children with pyruvate carboxylase deficiency type A typically survive only into early childhood. (chemeurope.com)
• Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency. (chemeurope.com)

Citrin Deficiency1

• Citrin deficiency: A treatable cause of acute psychosis in adults. (uzh.ch)

Enzyme deficiency1

• SSADH deficiency is caused by an enzyme deficiency in GABA degradation. (wikipedia.org)

Neonatal1

• Lethal neonatal deficiency of carbamyl phosphate synthetase. (naver.com)

Hereditary1

• Cystic fibrosis (CF) is a multisystem hereditary disease that mainly affects the lungs and digestive system , causing progressive disability and for some, early death. (newworldencyclopedia.org)