Propionic acidemia. Medical search. Frequent questions

This helps distinguish it from related conditions, such as methylmalonic acidemia with homocystinuria . (medlineplus.gov)
121 Mendelian pathogenic or likely pathogenic variants associated with 31 inherited diseases were detected, among these hearing loss, congenital hypothyroidism, methylmalonic acidemia, methylmalonic acidemia with homocystinuria, phenylketonuria(PKU) and benign hyperphenylalaninemia accounted for half of the carrier variants. (researchsquare.com)

Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. (wikipedia.org)

2016), worldwide, the cases of Propionic Acidemia (PA) vary widely. (glamandfashionnews.com)

Variants that affect proteins produced from these three genes can impair the activity of methylmalonyl-CoA mutase, leading to methylmalonic acidemia. (medlineplus.gov)
Almasi T, Guey LT, Lukacs C, Csetneki K, Voko Z, Zelei T. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. (medlineplus.gov)

However, we have successfully and safely used valproate to control seizures in a patient with propionyl coenzyme A carboxylase deficiency, a disorder characterized by both hyperglycinemia and propionic acidemia. (northwestern.edu)
Propionic Acidemia is a rare metabolic disorder characterized by the deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of proteins. (glamandfashionnews.com)
Roth KS, Yang W, Foremann JW, Rothman R, Segal S. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (medscape.com)
Deficiency of this dehydrogenase results in isovaleric acidemia, also known as "sweaty feet" syndrome, because accumulated isovaleric acid emits an odor that smells like sweat. (msdmanuals.com)

This education is important because metabolic decompensation plays a major role in the neurologic problems and sequelae observed in patients with propionic acidemia. (medscape.com)
This Review provides a comprehensive historical overview of all known organic acidemias that feature cardiac complications and a state-of-the-art overview of the cardiac sequelae observed in propionic acidemia. (ox.ac.uk)

Indeed, cardiac pathologies, such as cardiomyopathy and arrhythmia, are frequently reported in organic acidemia patients, but the underlying pathophysiological mechanisms are not well established. (ox.ac.uk)

The epidemiology section provides insights into the historical, current, and forecasted Propionic Acidemia epidemiology trends in the seven major countries (7MM) from 2019 to 2032. (glamandfashionnews.com)

Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. (medscape.com)

Presentation must be distinguished from all other causes, such as other organic acidemias, sepsis, and galactosemia. (medscape.com)

citation needed] Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia. (wikipedia.org)
Variants (also called mutations) in the MMUT , MMAA , MMAB , MMADHC , and MCEE genes cause methylmalonic acidemia. (medlineplus.gov)

Elevated metabolites of propionic acid (for example, 3-hydroxypropionate, 2-methylcitrate, tiglylglycine, propionylglycine) found in blood and urine along with normal activity of biotinidase and normal levels of methylmalonic acid. (wikipedia.org)
suggested that metabolites of the dysfunctional propionic acid and methylmalonic acid pathways may be selectively toxic to the endothelial cells in the basal ganglia. (medscape.com)
The article identifies the most promising candidates for molecular mechanisms that become aberrantly engaged by propionate anions (and its metabolites), and discusses how these may result in cardiac derangements in propionic acidemia. (ox.ac.uk)

Severe propionic acidemia lead to symptoms already seen in newborns. (wikipedia.org)
There is a high mortality rate in patients with organic acidaemias having severe insulinresistant hyperglycaemia. (elsevierpure.com)
In the blood and other body fluids, these organic chemical species can collectively reach concentrations of several millimolar in severe metabolic acidoses, as in the case of inherited organic acidemias, and exert powerful biological actions on the heart that are not intuitive to predict. (ox.ac.uk)
Mut 0 is the most severe form of methylmalonic acidemia and has the poorest outcomes. (medlineplus.gov)

Clinical and imaging evidence suggests that propionic acidemia predisposes patients to bilateral infarcts of the basal ganglia involving the caudate, putamen, and globus pallidus. (medscape.com)
The assessment part of the report embraces, in depth Propionic Acidemia commercial assessment and clinical assessment of the pipeline products under development. (researchandmarkets.com)
In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Propionic Acidemia collaborations, licensing, mergers and acquisition, funding, designations and other product related details. (researchandmarkets.com)
This segment of the Propionic Acidemia report encloses its detailed analysis of various drugs in different stages of clinical development, including phase II, I, preclinical and Discovery. (researchandmarkets.com)
Recent research connects propionic acidemia to the pathogenesis of ASD, opening up a new subfield of clinical research that has the potential to immediately help patients find relief from symptoms. (altmedrev.com)

The companies and academics that are working to assess challenges and seek opportunities that could influence Propionic Acidemia R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition. (researchandmarkets.com)
Several potential therapies for Propionic Acidemia are under investigation. (researchandmarkets.com)
With the expected launch of these emerging therapies, it is expected that there will be a significant impact on the Propionic Acidemia market size in the coming years. (researchandmarkets.com)
As per DelveInsight, the Propionic Acidemia Market is anticipated to evolve immensely in the coming years owing to the rising prevalent cases of Propionic Acidemia and the expected launch of upcoming therapies in the market. (glamandfashionnews.com)
The report covers the emerging Propionic Acidemia drugs, current treatment practices, market share of individual therapies, and current & forecasted market size from 2019 to 2032. (glamandfashionnews.com)
The market outlook section of the report helps to build a detailed comprehension of the historical, current and forecasted Propionic Acidemia market size by analyzing the impact of current and emerging pipeline therapies. (glamandfashionnews.com)
The report gives complete detail of the Propionic Acidemia market trend for each marketed drug and mid & late-stage pipeline therapies by evaluating their impact based on the annual cost of therapy, their Mechanism of Action (MOA), Route of Administration (ROA), molecule types, competition with other therapies, brand value, and their impact on the market. (glamandfashionnews.com)
Moderna's pipeline also includes vaccines against Epstein-Barr virus (EBV), HIV, human metapneumovirus, Zika virus, seasonal influenza, and therapies for propionic and methylmalonic acidemia, cancer and others. (biospace.com)

Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. (biomedcentral.com)
Acute management of propionic acidemia. (bvsalud.org)

Another competing hypothesis states that hyperammonemia, which is often associated with propionic acidemia, leads to an accumulation of glutamine and/or glutamate in astrocytes. (medscape.com)

miRNome expression profiling was performed in a mouse model of propionic acidemia (PA) and in patients' plasma samples to investigate the role of miRNAs in the pathophysiology of the disease and to identify novel biomarkers and therapeutic targets. (elsevierpure.com)

Propionic acidemia (PA) is a rare autosomal-recessive metabolic disease that arises from mutations in propionyl-CoA (C3-CoA) carboxylase. (rcsb.org)

A better understanding of disease pathogenesis contributing to the development of novel therapeutics for Propionic Acidemia. (researchandmarkets.com)

In 1969, using data from the original patient's sister, scientists established that propionic acidemia was a recessive disorder, and that propionic acidemia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway. (wikipedia.org)
Propionic acidemia is an autosomal recessive, inherited, metabolic disorder that is caused by a defective form of the enzyme propionyl-coenzyme A (CoA) carboxylase, which results in the accumulation of propionic acid . (medscape.com)
Propionic acidemia is classified as an inherited, autosomal recessive, organic acid disorder. (medscape.com)
Propionic acidemia is a rare metabolic disorder affecting from 1/20,000 to 1/250,000 individuals in various regions of the world. (researchandmarkets.com)
Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. (elsevierpure.com)

As a result, a substance called methylmalonic acid and other potentially toxic compounds can accumulate in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia. (medlineplus.gov)
Disruption in the function of methylmalonyl CoA epimerase leads to a form of methylmalonic acidemia with varied signs and symptoms. (medlineplus.gov)

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. (uam.es)

Research efforts in the area of organic anion physiology have increased dramatically in recent years, particularly for propionate, which accumulates in propionic acidemia, one of the commonest organic acidemias characterized by a high incidence of cardiac disease. (ox.ac.uk)
For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they cannot catabolize propionate, leading to its harmful accumulation. (umassmed.edu)
Here, we use a model of propionic acidemia in the nematode Caenorhabditis elegans to identify genetic modifiers of propionate sensitivity. (umassmed.edu)

The accumulation of propionic acid is known to induce differential responses in different organs. (wikipedia.org)
Accumulation of propionic acid apparently results in an abnormal cytochrome-c oxidase. (medscape.com)

Autism in patients with propionic acidemia. (ucsf.edu)

Methylmalonic acidemia occurs in an estimated 1 in 50,000 to 100,000 people. (medlineplus.gov)

RÉSUMÉ Le programme national de dépistage néonatal aux Émirats arabes unis couvre actuellement 16 maladies ou troubles : l'hyperthyroïdie congénitale, la drépanocytose, l'hyperplasie congénitale des surrénales, le déficit en biotinidase ainsi que 12 troubles des acides aminés, organiques et gras. (who.int)

citation needed] In many cases, propionic acidemia can damage the brain, heart, kidney, liver, cause seizures and delays to normal development such as walking or talking. (wikipedia.org)

Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35,000 live births in the United States. (wikipedia.org)
Propionic acidemia is inherited in an autosomal recessive pattern. (researchandmarkets.com)

Propionic acidemia can vary in severity. (wikipedia.org)
The long-term effects of methylmalonic acidemia depend on which gene is altered and the severity of the variant. (medlineplus.gov)

Organic Acid Disorders include: Methylmalonic Acidemia (MMA), Propionic Acidemia (PPA), Multiple Carboxylase Disorders, and Glutaric Acidurias (GA), among others. (kaiserpermanente.org)

Patients with propionic acidemia should be started as early as possible on a low protein diet. (wikipedia.org)
[ 1 ] Surtees et al divided patients with propionic acidemia into two subgroups: those with early onset disease presenting in the first week of life and those with late-onset disease presenting after age 6 weeks. (medscape.com)
Antisense morpholino oligonucleotides directed at intronic pseudoexons have been shown to increase propionyl-CoA carboxylase activity to normal levels in fibroblast cell lines derived from patients suffering from propionic acidemia. (medscape.com)

Our in-depth analysis of the pipeline assets (in early-stage, mid-stage and late stage of development for the treatment of Propionic Acidemia) includes therapeutic assessment and comparative analysis. (researchandmarkets.com)

Individuals with propionic acidemia cannot perform this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional. (wikipedia.org)
Propionic acidemia affects about 1/20,000 to 1/250,000 individuals in various regions of the world. (glamandfashionnews.com)
About 60 percent of individuals with methylmalonic acidemia have variants in the MMUT gene. (medlineplus.gov)

Some cases of methylmalonic acidemia are caused by variants in the MMAA , MMAB , or MMADHC gene. (medlineplus.gov)
A few other cases of methylmalonic acidemia are caused by variants in the MCEE gene. (medlineplus.gov)

People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications. (medlineplus.gov)

Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. (medlineplus.gov)

Cardiac Complications of Propionic and Other Inherited Organic Acidemias. (ox.ac.uk)

This "Propionic Acidemia - Pipeline Insight, 2022," report provides comprehensive insights about 5+ companies and 5+ pipeline drugs in Propionic Acidemia pipeline landscape. (researchandmarkets.com)
The drug uptake section focuses on the uptake rate of potential drugs recently launched in the Propionic Acidemia market or expected to be launched during the study period. (glamandfashionnews.com)

Propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) are disorders affecting the catabolic pathway of the branched-chain amino acids (BCAA) L-isoleucine and L-valine, and the amino acids L-threonine and L-methionine. (biomedcentral.com)

Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals. (pafoundation.com)
Propionic Acidemia Foundation is a non-profit 501(c)3 organization. (pafoundation.com)
Research reported in this work was funded by Grant PAF107 from the Propionic Acidemia Foundation and by grant SAF2016-76004-R from Spanish Ministry of Economy and Competitiveness and European Regional Development Fund. (uam.es)

Biochemical findings are profound ketonemia and acidemia. (msdmanuals.com)

A detailed picture of the Propionic Acidemia pipeline landscape is provided which includes the disease overview and Propionic Acidemia treatment guidelines. (researchandmarkets.com)

A detailed portfolio of major pharma players who are involved in fueling the Propionic Acidemia treatment market. (researchandmarkets.com)
It also evaluates the current Propionic Acidemia treatment practice/algorithm, key drivers & barriers impacting the market growth, and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market. (glamandfashionnews.com)

Toxic buildup of propionic acid can be found in the brain and other parts of the nervous system. (medscape.com)

Propionic Acidemia - Pipeline Insight, 2022" report outlays comprehensive insights of present scenario and growth prospects across the indication. (researchandmarkets.com)

However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism, such as propionic acidemia. (hmdb.ca)

Diseases3

Chemicals and Drugs7

Phenomena and Processes1

Homocystinuria2

Propionyl-CoA carboxylase defici1

20161

Methylmalonyl-CoA mu2

Deficiency4

Sequelae observed2

Organic acidemia1

Epidemiology1

Defects1

Galactosemia1

Genes cause2

Metabolites3

Severe4

Clinical5

Therapies8

Acute2

Hyperammonemia1

Pathophysiology1

Metabolic disease1

Therapeutics1

Disorder5

Signs and symptoms2

PCCB1

Propionate3

Accumulation2

Autism1

100,0001

Biotinidase1

Seizures1

Autosomal2

Severity2

Acidurias1

Patients3

Assessment1

Individuals3

Gene2

Episodes1

Fats1

Complications1

Drugs2

Amino1

Foundation3

Findings1

Disease1

Treatment2

Toxic1

Insights1

Metabolism1