Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic. The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late- onset disease. A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA ().
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The essential amino acids valinemethionineisoleucineand threonineas well as odd-chain fatty acids hence the mnemonic “VOMIT”are simply propiohica to propionyl-CoA, before the process stops, leading to a buildup of propionyl-CoA. Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome: Vomiting, protein intolerance, failure to thrive, porpionica, developmental regression, movement disorders.
Cardiology evaluation, screening for cardiomyopathy and arrhythmias by echocardiogram, ECG, and Holter monitor, annual and as needed.
Orphanet: Acidemia propionica
Propionyl-CoA carboxylase alpha chain, mitochondrial. National Center for Biotechnology InformationU. The term propionic aciduria is used infrequently. New splicing mutations in propionic acidemia. Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with PA the following evaluations are recommended see Figure 2 if they have not already been completed: Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress e.
Excessive protein restriction can result in deficiency of essential amino acids and impaired growth, as well as catabolism-induced metabolic decompensation.
Propipnica to enteral feedings should be commenced as soon as they are tolerated see Prevention of Primary ManifestationsDietary management. Jameson E, Walter J.
Mitochondrial disorder may enter the differential diagnosis when individuals present with hyperammonemia, metabolic ackdemia, ketonuria, and hypoglycemia [ Baumgartner et al ]. Differential diagnosis Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis.
Deficient activity of propionyl-CoA carboxylase results in accumulation of propionic acid and pripionica related metabolites, which can be detected biochemically. Similar to other inborn errors of metabolism, care should be exercised when using antipsychotic medications as they can mask clinical signs of encephalopathy or cause adverse effects.
Living-donor liver transplantation for propionic acidaemia. In at least one individual with organic acidemia, propionic acid was misidentified as ethylene glycol [ Hoffman ].
Neurologic nonmetabolic presentation of propionic acidemia. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin.
Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, acidemiaa stenosis or other common causes of increased anion gap acidosis.
Inthe medical team at Johns Hopkins Hospital in BaltimoreMaryland published the case, calling the disorder ketotic hyperglycenemia. We are determined to keep this website freely accessible. The number of other cases of organic acidemias observed during the same period was Seizures are a frequent complication of PA, necessitating an antiepileptic drug.
Systematic studies of adult individuals with PA are lacking. Idiopathic hyperglycinemia and hyperglycinuria: Acldemia many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Chronic kidney disease in an adult with propionic acidemia.
Pregnancy Management Although successful pregnancy outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], pregnancy can pose a significant management challenge. In some individuals recurrent pancreatitis can lead to insulin-dependent diabetes. Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Common in Spanish populations [ Desviat et al ]. A typical presentation of PA in the neonatal period is characterized by a healthy newborn with poor feeding and decreased arousal in propionlca first few days of life, followed by progressive encephalopathy of unexplained origin.
The question whether a liver transplantation can be performed early in infancy to improve the prognosis is still under investigation. Rpopionica Synopsis Toggle Dropdown.
Pena L, Burton BK. Suggested guidelines for the diagnosis and management of urea cycle disorders. Methods include depending on age and clinical situation continuous veno-venous hemofiltration, extracorporeal membrane oxygenation, or hemodialysis [ Chapman et alBaumgartner et al ]. Family planning The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
The same condition was described by Hommes et al. The following evaluations are performed at different intervals depending on factors such as age, disease severity, and presence of catabolic stressors; evaluation frequency can range from every three months to annually.