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Topic: Propionic acidemia

Related Topics

Methylmalonic acidemia

Hyperammonemia

Gene

Autosomal recessive

Enzyme

Protein

Metabolism

Lethargy

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	Propionic acidemia - Genetics Home Reference
		Propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly.
		Propionic acidemia occurs in about 1 in 100,000 live births in the United States.
		Mutations in the PCCA and PCCB genes cause propionic acidemia.
	ghr.nlm.nih.gov /condition=propionicacidemia (534 words)

	eMedicine - Metabolic Disease & Stroke: Propionic Acidemia : Article by Pitchaiah Mandava, MD, PhD (Site not responding. Last check: 2007-10-14)
		Clinical and imaging evidence suggests that propionic acidemia predisposes patients to bilateral infarcts of the basal ganglia involving the caudate, putamen, and globus pallidus.
		In patients in whom propionic acidemia was previously diagnosed, the acute onset of movement disorders caused by an infarction of the basal ganglia may be a presenting feature.
		Propionic acidemia is an inherited disease (autosomal recessive).
	www.emedicine.com /NEURO/topic577.htm (2395 words)

	Acidemia, Methylmalonic
		The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine).
		Methylmalonic Acidemias can usually be diagnosed before birth (prenatally) by measuring the concentration of methylmalonic acid in amniotic fluid or activity of the deficient enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chorionic villus sampling [CVS]).
		Methylmalonic acidemia is one of the disorders in which the investigators are interested, and they are recruiting participants.
	hw.healthdialog.com /kbase/nord/nord427.htm (1431 words)

	Funded by the NIH • Developed at the University of Washington, Seattle
		The organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child.
		In propionic acidemia, methylmalonic acidemia and isovaleric acidemia, amniotic fluid measurements of the appropriate
		Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
	www.jeena.org /meta_dis_overview.html (3688 words)

	Methylmalonic acidemia - Wikipedia, the free encyclopedia
		Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
		Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
		Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA.
	en.wikipedia.org /wiki/Methylmalonic_acidemia (228 words)

	RedOrbit - Health - Propionic Acidemia Revisited: A Workshop Report
		Summary: Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited.
		Propionic acidemia (PA), an autosomal recessive disorder caused by isolated deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC; EC 6.4.1.3),1 is one of the most frequent organic acidurias.
		Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.
	www.redorbit.com /news/display?id=111994 (3103 words)

	Propionic Acidemia - DrGreene.com
		Propionic acidemia can be a devastating condition, but with careful treatment it is sometimes possible for people with the disease not only to reach adulthood successfully but even to get pregnant and deliver healthy babies!
		Propionic acidemia is what we call an inborn error of metabolism.
		Although infants with true propionic acidemia are rarely responsive to biotin, this compound should be administered to infants during the initial attack.
	www.drgreene.com /21_690.html (1890 words)

	Indian Pediatrics - Editorial
		Organic acidemias are a heterogeneous group of inherited metabolic disorders due to defects in the catabolism of branched-chain amino acids, lysine and disorders that result in accumulation of lactic acid and dicarboxylic acids(1).
		In another, lactic acidemias were the commonest disorders (18%), followed by propionic acidemia (9.2%), methylmalonic acidemia (8.8%) and multiple carboxylase deficiency (6.6%)(3).
		Propionic acidemia and respiratory chain disorders seen in 19.3% each were the commonest organic acidemias diagnosed in this series followed by tricarboxylic acid cycle defects in 12.9% and methylmalonic acidemia in 9.6%.
	www.indianpediatrics.net /may2001/may-518-524.htm (2213 words)

	Acidemia, Isovaleric
		Methylmalonic Acidemias may be caused either by a deficiency of the enzyme methylmalonyl CoA mutase, methylmalonyl racemase, or of adenosylcobalamin (a vitamin B12 derivative) synthetic enzymes.
		Both forms are organic acidemias, a group of metabolic disorders characterized by the presence of excess acid in the blood and urine.
		In some cases, Isovaleric Acidemia may be diagnosed before birth (prenatally) by measuring the concentration of abnormal metabolites in amniotic fluid or the activity of the isovaleryl-CoA dehydrogenase enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chorionic villus sampling [CVS].
	hw.healthdialog.com /kbase/nord/nord504.htm (1608 words)

	Propionic Acidemia (PA)
		Propionic Acidemia (PA) is characterized by the accumulation of propionic acid due to a deficiency in Propionyl CoA Carboxylase, a biotin dependent enzyme involved in amino acid catabolism.
		Until the diagnosis of PA is clearly established, all patients should be given a trial of cobalamin and biotin to evaluate a response.
		Fenton, W.A., Gravel, R.A. and Rosenblatt, D.S. Disorders of Propionate and Methylmalonate Metabolism.
	www.pediatrix.com /body_screening_menu.cfm?id=1573 (597 words)

	Breastfeeding with a Metabolic Disorder & Propionic Acidemia - DrGreene.com
		Propionic acidemia is one of what we call the inborn errors of metabolism.
		In propionic acidemia, one little enzyme is missing, but this is enough to change an entire life.
		The propionic acid causes poor feeding, vomiting, dehydration, floppiness, and lethargy, which usually show up in the first weeks of life, and can progress rapidly to coma and death.
	www.drgreene.com /21_692.html (1096 words)

	Abstract
		Methylmalonic acidemia is a rare autosomal-recessive inborn error of metabolism which is caused by a downstream defect in the propionate metabolic pathway.
		The former was later ascribed to a defect in propionate metabolism, and named propionic acidemia.
		Methylmalonic acidemia and propionic acidemia are now recognized as the most common inborn errors of organic acid metabolism.
	www.musc.edu /BCMB/onlinepubs/molecularmedicinejournal/vol2001/mbmpaper (7480 words)

	Propionic Acidemia Foundation FAQ
		The gene defect for PA is an autosomal recessive genetic trait that is unknowingly passed down from generation to generation.
		Every day an individual with propionic acidemia walks a metabolic tightrope of getting enough protein for normal growth and development and getting too much protein causing instability.
		Propionic acidemia (PA) is caused by defects in either the PCCA (chromosome 13q32) or PCCB (chromosome 3q21-q22) genes.
	pafoundation.com /faq.htm (614 words)

	Propionic Acidemia Research
		Propionic acidemia is a multi-faceted disorder that is complicated by each child's individual genetic makeup which makes finding genotype/phenotype correlations diffucult.
		Propionic acidemia is an autosomal recessive genetic disorder of amino acid metabolism.
		need to be encouraged to take a look at these issues and consider pursuing studies on propionic acidemia to ensure a new generation of metabolic researchers will follow today's leaders.
	www.paresearch.org (905 words)

	Methylmalonic Acidemias (Site not responding. Last check: 2007-10-14)
		Methylmalonic acidemia is one of the most studied metabolic defects, having been first reported in 1967.
		The incidence is at least 1 in 48,000 births, but is probably higher due to lack of recognition and diagnosis.
		The picture of methymalonic acidemia as recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, and lethargy that can lead to coma and death is often seen in the first week of life.
	www.pediatrix.com /body_screening_menu.cfm?id=1571 (707 words)

	Acute Illness Protocols (Site not responding. Last check: 2007-10-14)
		The organic acidemias comprise a group of metabolic disorders in which the defect produces an accumulation of organic acids*.
		The inheritance of propionic acidemia is autosomal recessive.
		Free carnitine levels are low in the organic acidemias because of increased esterification with organic acid metabolites.
	www.childrenshospital.org /newenglandconsortium/NBS/PAA.html (1443 words)

	Propionic acidemia (Site not responding. Last check: 2007-10-14)
		Clinical signs - which are close to those seen in methyl malonic acidemia -appear soon after birth and include ketoacidotic coma, hyperammonemia and convulsions.
		Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis.
		Diagnosis is made by chromatography of urinary organic acids and plasmatic acylcarnitines with evidence of propionic acid and other derived products.
	www.orpha.net /static/GB/propionic_acidemia.html (149 words)

	UniProtKB/Swiss-Prot entry P05166 [PCCB_HUMAN] Propionyl-CoA carboxylase beta chain, mitochondrial
		Lamhonwah A.-M. Leclerc D. Loyer M. Clarizio R. Gravel R.A. "Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.";
		Ohura T. Ogasawara M. Ikeda H. Narisawa K. Tada K. "The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.";
		Tahara T. Kraus J.P. Rosenberg L.E. "An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.";
	www.expasy.org /uniprot/P05166 (765 words)

	Propionic Acidemia Foundation Home Page
		Propionic Acidemia is a rare disorder that is inherited from both parents.
		The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for PA by funding research and providing information and support to families and medical professionals.
		To create a future where Propionic Acidemia can be prevented and any affected individual can be cured and live a productive life.
	pafoundation.com (206 words)

	REFERENCES
		Campeau E, Dupuis L, Leclerc D, Gravel RA (1999a) Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
		Campeau E, Dupuis L, Leon-Del-Rio A, Gravel R (1999b) Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
		Tahara T, Kraus JP, Rosenberg LE (1990) An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
	www.uchsc.edu /cbs/pcc/references.htm (882 words)

	Life with PA begins
		Hummel narrowed down Cady's condition to three diseases, all very similar in presentation: Propionic Acidemia, Methylmalonic Acidemia and Holocarboxylase Synthetase Deficiency.
		All three conditions were treated at the same time until a difinitive diagnosis could be obtained through skin biopsy.
		She screamed her head off when we bathed her (music to a mother's ears!) After 32 days at WVUCH, we were able to take Cady home, still treating her for all three diseases, still waiting for a diagnosis.
	mysite.verizon.net /ressix8z/id11.html (621 words)

	Propionic Acidemia (PA) aka Propionyl CoA Carboxylase Deficiency
		Propionic Acidemia (PA) aka Propionyl CoA Carboxylase Deficiency
		(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
		Propionic Acidemia: A Neuropathology Case Report and Review of Prior Cases - College of American Pathologists
	www.oaanews.org /pa.htm (268 words)

	Jordan - Propionic Acidemia
		This is a personal story shared by a family whose child has Propionic Acidemia (PA).
		My parents were sad and confused and didn't realize the seriousness of my condition until the doctor came back with a diagnosis.
		I had Propionic Acidemia, an inborn error of metabolism.
	www.savebabies.org /familystories/JordanPA.php (848 words)

	propionic - OneLook Dictionary Search
		Propionic : Online Plain Text English Dictionary [home, info]
		Propionic acid is so called because it is the first or lowest member of the fatty acid series whose salts have a fatty feel.
		Phrases that include propionic: propionic acid, propionic acidemia, propionic acid chemdata supplement
	www.onelook.com /?w=propionic (187 words)

	Medical Dictionary: Acidemia, propionic - WrongDiagnosis.com
		Acidemia, propionic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Acidemia, propionic, or a subtype of Acidemia, propionic, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Acidemia, propionic:
	www.wrongdiagnosis.com /medical/acidemia_propionic.htm (217 words)

	Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific ...
		Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene -- Miyazaki et al.
		Propionic acidemia (PA) is an inborn error of metabolism caused by the genetic deficiency of propionyl-CoA carboxylase (PCC).
		Propionic acidemia (PA) is the most frequent autosomal recessive disorder of organic acid metabolism in humans.
	www.jbc.org /cgi/content/full/276/38/35995 (4031 words)

	Propionic acidemia Treatment and Symptoms
		Propionic acidemia is an inherited disorder of inborn error of intermediary...
		The condition, which usually appears in early infancy, is characterized...
		Your Integrative Health and Wellness Resource for Propionic acidemia.
	goldbamboo.com /topic-t6903.html (241 words)

	Propionic Acidemia (PPA) - KP Genetics Northern California
		Propionic Acidemia (PPA) - KP Genetics Northern California
		PPA is a condition that occurs when the body lacks an enzyme needed to break down (metabolize) protein.
		As a result, these amino acids cannot be metabolized properly causing Propionic Acid (PPA) to build up in the blood and damage the body, especially the brain.
	www.dor.kaiser.org /genetics/home/ppa.htm (2132 words)

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