Propionic acidemia is a protein degradation disorder which causes the accumulation of certain toxic products propionic acid and its derivatives in plasma, urine and tissues. Individuals with this disorder usually present with lifethreatening illness early in infancy. Jerry vockley, in emery and rimoins principles and practice of medical genetics, 20. Generalized anxiety disorder understanding the nature of worry and anxiety duration. Due to a genetic defect, the body is unable to properly process certain parts of proteins and fats. Acidemia propionica pdf propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids fats properly. Methylmalonic acidemia mma gene therapy charles venditti and randy chandler duration. Mild forms of the disease are probably more common and the true incidence may be as high as 1 case in 18,000 of the population. Propionic acidemia can present in one of the following forms. Propionic acidemia is a genetic, organic acid disorder in which the body is unable to correctly process proteins and fats, leading to the abnormal buildup of propionylcoa in the bloodstream. Current treatment involves restricting consumption of these substrates or liver transplantation.
Generation of a hypomorphic model of propionic acidemia. Propionic acidemia is a major cause of ketotic hyperglycinemia. This causes a build up of propionic acid and other harmful substances in the body and can cause problems. This leads to a buildup of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. In pa, the body is unable to break down 4 amino acids methionine, threonine, isoleucine and valine and certain fatty acids. Propionic acidemia pa is an organic aciduria caused by the deficient activity of the propionyl coenzyme a carboxylase and is characterized. 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. The majority 85% of the patients exhibited clinical manifestations in the 1st week of life. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone. Propionic acidemia, one of the more common organic acidemias, was first described in 1968 in an infant with severe metabolic acidosis, and many additional patients have since been reported. In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication poor feeding, vomiting, altered sensorium and pancytopenia within several hours to weeks after birth. Other articles where propionic acidemia is discussed. Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity. A deficiency in propionylcoa carboxylase pcc causes pa patients to produce propionic.
What i learned from attending a propionic acidemia conference im sitting in a conference room listening to researchers, doctors, and dietitians challenge each other. If you have problems viewing pdf files, download the latest version of adobe reader. Without prompt diagnosis and treatment, it can cause coma and even death. Propionic acidemia pa is an organic acidemia caused by deficiency of propionylcoa carboxylase pcc, a biotindependent carboxylase located in the mitochondrial inner space. Propionic acidemia foundation 1963 mccraren rd highland park, il 60035. Symptoms associated with propionic acidemia are due to a toxic. Propionic acidemia, also known as propionic aciduria or propionylcoa carboxylase deficiency pcc deficiency, is a rare autosomal recessive metabolic disorder, classified as a branchedchain organic acidemia the disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Propionic acidemia is an autosomal recessive genetic disorder of amino acid metabolism.
Propionic acidemia is an inherited metabolic disorder in which the body is unable to process certain parts of proteins and lipids fats properly. Theyre questioning each others studies, pressing to gain more information, debating on best practices. Propionic acidemia is a rare metabolic disorder affecting from 120,000 to 1 250,000 individuals in various regions of the world. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. Moderna and the propionic acidemia foundation duration. These datasets are not to be construed as descriptions of standards of care or treatment for the related disorder or condition. Propionic acidemia icd10cm index to diseases and injuries.
Propionic acidemia an overview sciencedirect topics. Propionylcoa also is processed, by an enzyme in the citric acid cycle, to methylcitrate. This ultimately leads to the symptoms of the condition. Without treatment, death can occur quickly, due to secondary. Propionic acidemia is an inherited disease characterized by vomiting, lethargy, developmental delays, and hypotonia. Propionic acidemia is a rare and serious genetic disorder that affects multiple systems of the body, including the brain and heart. Complications are currently described mostly in the form of case reports. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Propionic acidemia nord national organization for rare. Cuenta tu historia y ayuda a otros contar mi historia. Propionic acidemia pa is an inherited metabolic disease caused by mutations in either the pcca or pccb genes richard et al.
Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, hyperglycemia, lethargy, vomiting. The propionic acidemia foundation is a 501c3 nonprofit organization dedicated to finding improved treatments and a cure for propionic acidemia by funding research and providing information and support to families and medical professionals. Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids fats properly. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Propionylcoa is instead converted to propionic acid that causes acidosis, a lifethreatening condition. Methylcitrate blocks normal functioning of the citric. Propionic acidemia, also known as propionic aciduria or propionylcoa carboxylase deficiency pcc deficiency, is a rare autosomal recessive metabolic. The age of pa diagnosis, frequency of metabolic decompensation, and residual enzymatic activity do not correlate with presenceabsence of. Propionylcoa is an intermediate in the oxidation of four amino acids threonine, valine. Autosomal recessive metabolic disorder caused by mutations in propionylcoa carboxylase genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Propionic acidemia pa is a rare organic acidemia that is due to deficiency in the enzyme propionylcoa carboxylase. The diseasespecific care plans and shared datasets described herein have been prepared solely to establish uniform data collection for measurement of longterm followup outcome measures.
Organic acids refer to the amino acids and certain oddchained fatty acids which are affected by these. Read more about symptoms, diagnosis, treatment, complications, causes. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia pa. For language access assistance, contact the ncats public information officer. This condition interferes with other metabolic processes and may cause lifethreatening ketoacidosis, cardiomyopathy, and encephalopathy. Clinical and outcome data of 55 patients with propionic acidemia from 16. Late onset optic neuropathy in methylmalonic and propionic. Statistics of propionic acidemia 0 people with propionic acidemia have taken the sf36 survey. Fibroblasts from a compound heterozygous pa patient carrying two mutations in the pcca gene c. All statistical analyses were performed using spss 16. Abnormal levels of organic acids in the blood organic acidemia, urine organic aciduria. Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branchedchain amino acids, causing a buildup of acids which are usually not present the branchedchain amino acids include isoleucine, leucine and valine.
Proteins are formed by a very long chain of amino acids. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Individuals with propionic acidemia have abnormalities in an enzyme, propionylcoa carboxylase, which breaks down proteins and certain types of fats and cholesterol. Propionic acidemia pa is a rare genetic disorder present from birth. It is a rare condition that on a worldwide basis probably affects about 1 child in 100,000 births. Propionic acidemia is caused by a deficiency of the enzyme propionylcoa carboxylase, which results in an accumulation of propionic acid. Propionic acidemia genetic and rare diseases information. Propionic acidemia description, causes and risk factors. Propionic acidemia medigoo health medical tests and. Propionic acidemia is a rare metabolic disorder characterized by deficiency of propionyl coa carboxylase, an enzyme involved in the breakdown catabolism of the chemical building blocks amino acids of certain proteins. Propionic acidemia is a rare metabolic disorder characterized by an accumulation of propionyl acids in blood, tissues, and urine.
Propionic acidemia 1117 comp v1 integrated genetics. Propionic acidemia mountain states geneticsmountain. Abnormal levels of organic acids in the blood organic acidemia. Generation and characterization of a human ipsc line from. Propionic acidemia pa is a recessive genetic disease that results in an inability to metabolize certain amino acids and oddchain fatty acids. The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy. Acidemia, dehydration, low white blood cell count, low muscle tone, and. Propionic acidemia is an inherited disorder caused by deficiency of propionylcoa carboxylase. Propionic acidemia is an inherited condition in which the body cant breakdown certain parts of proteins and fats. Propionic acidemia, also known as propionic aciduria or propionylcoa carboxylase deficiency pcc deficiency, is a rare autosomal recessive metabolic disorder, classified as a branchedchain organic acidemia. Propionic acidemia is a descriptor in the national library of medicines controlled vocabulary thesaurus, mesh medical subject headings.
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