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Topic: Methylmalonic acidemia

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Hyperammonemia

Propionic acidemia

Metabolism

Lethargy

Autosomal recessive

Enzyme

Gene

Protein

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	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)

	Methylmalonic Acidemias
		Methylmalonic acidemia is one of the most studied metabolic defects, having been first reported in 1967.
		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.
		Prenatal diagnosis is possible by measuring methylmalonic acid in amniotic fluid or maternal urine, and by enzyme activity studies in cultured amniocytes.
	www.pediatrix.com /body_screening_menu.cfm?id=1571 (707 words)

	eMedicine - Methylmalonic Acidemia : Article by Olaf A Bodamer, MD, PhD, FACMG (Site not responding. Last check: 2007-10-03)
		MMA encompasses a heterogeneous group of disorders that are characterized by accumulation of methylmalonic acid and its by-products in biological fluids.
		Methylmalonic acidemia (MMA) is difficult to diagnose because of nonspecific symptoms at presentation.
		Worgan LC, Niles K, Tirone JC, et al: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
	www.emedicine.com /ped/topic1438.htm (3096 words)

	Methylmalonic acidemia - Genetics Home Reference
		Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
		Mutations in the MMAA, MMAB, and MUT genes cause methylmalonic acidemia.
		About half of methylmalonic acidemia cases are caused by mutations in the MUT gene.
	ghr.nlm.nih.gov /condition=methylmalonicacidemia (717 words)

	eMedicine - Metabolic Disease & Stroke: Methylmalonic Acidemia : Article by Pitchaiah Mandava, MD, PhD (Site not responding. Last check: 2007-10-03)
		Background: Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA.
		Therefore, the neurologic consequences of methylmalonic acidemia may not be a result of metabolic abnormalities in the liver, but rather, they may be a local metabolic disturbance in the brain.
		The inheritance pattern of methylmalonic acidemia is autosomal recessive.
	www.emedicine.com /neuro/topic576.htm (2681 words)

	Methylmalonic acidemia Information on Healthline
		Methylmalonic acidemia (MMA) is a group of disorders characterized by the accumulation of methylmalonic acid in the fluids of the affected individual.
		Methylmalonic acidemia (MMA) is characterized by an accumulation of methylmalonic acid in the blood stream, which leads to an abnormally low pH (high acidity) in nearly every cell in the body (metabolic acidosis).
		Methylmalonic acid is an intermediate in the metabolism of fats and proteins.
	www.healthline.com /galecontent/methylmalonic-acidemia (747 words)

	Lifespan's A - Z Health Information Library - Methylmalonic acidemia
		It causes the accumulation of methylmalonic acid in the body and can lead to severe metabolic problems.
		People with this disease can't change, or "metabolize," an enzyme called methylmalonyl-coenzyme A. The result is a buildup of methylmalonic acid in the body.
		The disease is usually diagnosed in the first year of life.
	www.lifespan.org /adam/healthillustratedencyclopedia/1/001162.html (416 words)

	Clinical Trial: Clinical and Laboratory Study of Methylmalonic Acidemia
		This study will evaluate patients with methylmalonic acidemia (MMA) to learn more about the genetic causes of the various types of this inherited metabolic disorder and the medical complications associated with it.
		Affected patients exhibit extreme elevations of methylmalonic acid in all tissues and body fluids and are metabolically fragile.
		We will define and characterize a patient population, obtain cells and urine, perform mutation analysis in known genes, and search for the causative genes when the molecular basis of the complementation class is uncertain.
	www.clinicaltrials.gov /ct/show/NCT00078078 (1099 words)

	Methylmalonic Acidemia (MMA) - KP Genetics Northern California
		MMA 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 Methylmalonic Acid (MMA) to build up in the blood and damage the body, especially the brain.
		The goal of MMA treatment is to keep the level of the methylmalonic acid (MMA) in the blood as low as possible in order to avoid any of the poor consequences of having high levels.
	www.dor.kaiser.org /genetics/home/mma.htm (2139 words)

	AllRefer Health - Methylmalonic Acidemia
		Methylmalonic acidemia is an inherited metabolic disorder, usually diagnosed in infancy, that causes the accumulation of methylmalonic acid in the body and can lead to severe metabolic disturbances.
		A defect in the metabolic conversion of methymalonyl-coenzyme A to succinyl-CoA leads to a build up of methylmalonic acid in the body.
		The disease is usually diagnosed in the first year of life because it can cause seizures and stroke.
	health.allrefer.com /health/methylmalonic-acidemia-info.html (364 words)

	Methylmalonic Acid: The Test
		Occasionally, MMA may be ordered along with other tests to help diagnose methylmalonic acidemia, a rare inherited metabolic disorder that occurs in about 1 in 25,000 to 48,000 people.
		Moderately to severely elevated levels of MMA may be seen in infants with the rare inherited disease methylmalonic acidemia.
		An elevated MMA test may indicate a B12 deficiency, but the amount of MMA measured does not necessarily reflect the severity of the deficiency, its likelihood of progressing, or the presence or severity of any symptoms.
	www.labtestsonline.org /understanding/analytes/mma/test.html (559 words)

	Expanded Newborn Screening Using Tandem Mass Spectromety
		This causes glycine, methylmalonic acid, and other harmful substances to build up in the blood and urine and cause health problems.
		Antibiotics taken by mouth can help lower the amount of methylmalonic acid made in the intestines.
		Methylmalonic aciduria due to methylmalonic CoA mutase deficiency
	www.newbornscreening.info /Parents/organicaciddisorders/MMA.html (2530 words)

	Methlymalonic Acidemia (MMA)
		The effects of methylmalonic acidemia vary from mild to life-threatening.
		This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy).
		E-Medicine - Metabolic Disease and Stroke: Methylmalonic Acidemia
	www.oaanews.org /mma.htm (224 words)

	Methylmalonic Aciduria
		Methylmalonic Aciduria (MMA) is also known as Methylmalonic CoA Mutase Deficiency.
		This condition is caused by an enzymatic defect in the oxidation of amino acids.
		Ask An Expert - My child has methylmalonic acidemia.
	www.savebabies.org /diseasedescriptions/methylmalonicaciduria.php (381 words)

	What is methylmalonic acidemia?
		Answer: Methylmalonic acidemia is an inherited illness in which the body doesn't metabolize protein correctly.
		Doctors don't usually test newborns for methylmalonic acidemia, but because it may cause the unexplained deaths and serious illnesses of some babies, many states are now thinking of including it among the many diseases for which doctors and midwives screen infants immediately after birth.
		According to Dr. Bruce Barshop and his clinical staff in the division of metabolic genetics at the University of California San Diego School of Medicine, a deficiency in the body's metabolism of methylmalonic acid, a type of amino acid, causes methylmalonic acidemia.
	www.babycenter.com /expert/4470.html (561 words)

	Methylmalonic acidemia (Disease)... Fort Lauderdale, Florida (Site not responding. Last check: 2007-10-03)
		The true rate of occurrence of the disease may be higher, because many neonatal deaths may be caused by undiagnosed metabolic disorders.
		Following a low-protein maintenance diets and avoiding infection help to reduce recurrent attacks of acidemia.
		Parents of a child with this disorder or couples desiring children who have a known family history of this disorder should seek information on genetic counseling.
	www.browardhealth.org /17607.cfm (412 words)

	Organic Acidemia Association - Propionic Acidemia, Methylmalonic Acidemia and Isovaleric Acidemia and other OAs, ...
		The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders.
		We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.
		(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
	www.oaanews.org (234 words)

	MMA Research Home Page
		This site was created by the families of children with Methylmalonic Acidemia.
		In doing so, we hope to help others understand how this disorder affects our children and what is being done to find better therapies and ultimately a cure.
		Groundbreaking medical research on this rare disorder is being conducted at the National Institutes of Health, led by Charles Venditti, MD, Ph.D. We hope you will help support this vital research with your tax-deductible donations paving the way for a new future in our children's lifetime.
	www.mmaresearch.com (86 words)

	Methylmalonic acidemia - References - Genetics Home Reference
		These sources were used to develop the Genetics Home Reference condition summary on methylmalonic acidemia.
		Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria.
		Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.
	ghr.nlm.nih.gov /condition=methylmalonicacidemia/show/References (81 words)

	Methylmalonic acidemia - Wikipedia, the free encyclopedia
		Mendelian Inheritance in Man (OMIM) 251100 - cblA type
		Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia.
		The numerous pathways in which the disease may develop displays its locus heterogeneity.
	en.wikipedia.org /wiki/Methylmalonic_acidemia (228 words)

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