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Topic: Inborn error of metabolism

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	HON Mother & Child Glossary, Disorders of Metabolism in Childhood
		Most metabolic diseases are caused by single defects in particular biochemical pathways, defects that are most often due to the deficient activity of individual enzymes (which are needed to stimulate a metabolic process) on a substrate (starting material).
		Metabolic disorders in childhood are usually carbohydrate metabolism disorders or pyruvate metabolism disorders.
		A severe metabolic disorder may be diagnosed in the foetus by using samples from the amniotic fluid surrounding the embryo.
	www.hon.ch /Dossier/MotherChild/child_metabolism/child_metabolism.html (468 words)

	Inborn error of metabolism - Wikipedia, the free encyclopedia
		Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism.
		The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century.
		Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.
	en.wikipedia.org /wiki/Inborn_error_of_metabolism (694 words)

	Hooke Issue 7 - Errors in Human Metabolism
		The term inborn error of metabolism was used many years before the definition of a gene, or before it was shown that a gene consists of a linear sequence of nucleotides which direct the synthesis of a specific polypeptide.
		The expanded definition of inborn errors of metabolism to include all biochemical disorders due to genetically determined, specific defects in the structure and/or function of proteins has a biological basis: enzymes are, of course, members of one of the many classes of proteins.
		Inborn errors should not be thought of as mere clinical curiosities, but as signposts on the way to greater understanding of the ways in which gene expression and protein structure influence individual variation and normal physiology.
	homepages.westminster.org.uk /hooke/issue7/hooke_errors.htm (1464 words)

	Discovery Health :: Diseases & Conditions :: inborn errors of metabolism
		Inborn errors of metabolism are inherited disorders that are caused by a defect in a single gene.
		The enzyme defects that lead to the inborn errors of metabolism are caused by abnormal genes.
		The enzyme defects that lead to the inborn errors of metabolism are caused by genetic abnormalities present from the time of conception.
	health.discovery.com /encyclopedias/illnesses.html?article=1914 (697 words)

	Inborn error of metabolism definition - Medical Dictionary definitions of popular medical terms
		Inborn error of metabolism: A heritable disorder of biochemistry.
		The term "inborn error of metabolism" was coined in 1908 by the British physician and pioneer in medical genetics, Sir Archibald Garrod (whose father also discovered a key abnormality in metabolism: the presence of uric acid in the urine of people with gout).
		The 4 inborn errors of metabolism that Archibald Garrod considered were albinism, alkaptonuria, pentosuria, and cystinuria.
	www.medterms.com /script/main/art.asp?articlekey=3951 (363 words)

	Inborn Errors of Metabolism - Talk Medical
		Inborn errors of metabolism are inherited disorders that are caused by a defect in a single gene.
		The enzyme defects that lead to the inborn errors of metabolism are caused by genetic abnormalities present from the time of conception.
		The children of women with some inborn errors of metabolism are at risk because of an unfavorable environment in the womb.
	www.talkmedical.com /diseases-disorders/535/Inborn-Errors-of-Metabolism (950 words)

	Case Based Pediatrics Chapter
		Inborn errors of metabolism (IEM) are a diverse group of disorders.
		Galactosemia is one of the commonly occurring disorders of carbohydrate metabolism.
		Metabolic acidosis is a key tool in the differentiation of urea cycle defects versus organic acidemias, but it is also quite useful in the evaluation of respiratory or energy transport chain defects.
	www.hawaii.edu /medicine/pediatrics/pedtext/s04c04.html (3568 words)

	Inborn Errors of Metabolism Information on Healthline
		Inborn Errors of Metabolism Disorders of Amino Acid Metabolism Disorders of Carbohydrate Metabolism Bibliography
		Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food (carbohydrates, proteins, and
		Inborn errors of metabolism often require diet changes, with the type and extent of the changes dependant on the specific metabolic disorder.
	www.healthline.com /galecontent/inborn-errors-of-metabolism (1148 words)

	Inborn Errors -- eCureMe.com
		Inborn errors of metabolism can also refer to a basic defect in the chemical reactions that rid the body of waste products, after energy is produced.
		The inborn errors do not all share the same symptoms or characteristics, but basically an enzyme is missing in the body chemistry, and the lack of enzyme tends to run in certain families.
		Some of the inborn errors are similar to diseases that run in families, have a potential for slow infant development, and are characterized by infant feeding difficulties (hypothyroidism) or episodes of
	www.ethex.com /emyhealth/Pediatrics/Inborn_Errors.asp (669 words)

	Metabolism
		Metabolism (pronounced: muh-tah-buh-lih-zum) is a collection of chemical reactions that takes place in the body's cells to convert the fuel in the food we eat into the energy needed to power everything we do, from moving to thinking to growing.
		Metabolism is a complicated chemical process, so it's not surprising that many people think of it in its simplest sense: as something that influences how easily our bodies gain or lose weight.
		When the metabolism of body chemicals is blocked or defective, it can cause a buildup of toxic substances in the body or a deficiency of substances needed for normal body function, either of which can lead to serious symptoms.
	kidshealth.org /parent/general/body_basics/metabolism.html (1943 words)

	Inbon
		Alcaptonurics are unable to metabolise homogentisic acid, which is an intermediary in the metabolic breakdown pathway of tyrosine and phenylalanine.
		Alcaptonuri was the first human disorder found to be inherited as a Mendelian autosomal recessive characteristic and the study of this condition led Garrod to formulate the concept of enzyme deficiency as a cause of disease.
		Phosphorus irritates, inflames and degenerates mucous membranes, irritates and inflames serous membrane, inflame spinal cord and nerves, causing paralysis.
	www.angelfire.com /ego/phrc/ssiem.htm (2125 words)

	REYE’S SYNDROME AN INBORN ERROR OF METABOLISM Pediatric Oncall
		REYE’S SYNDROME AN INBORN ERROR OF METABOLISM Pediatric Oncall
		Her blood gases revealed metabolic acidosis with bicarbonate of 13.3 MEq/L. In view of Reye’s syndrome without any precipitating cause, an underlying inborn error of metabolism was considered.
		An increasing number of inherited mitochondrial metabolic diseases have been described that produce episodes like Reye’s syndrome of which the main disorders are disorders of fatty acid oxidation, disorders of oxidative phosphorylation, urea cycle defects, organic acidurias and general mitochondrial dysfunction.
	www.pediatriconcall.com /FORDOCTOR/casereports/reyes_syndrome.asp (787 words)

	www.whonamedit.com
		Inheritable anomaly with disturbance of the polysaccharid metabolism.
		An inborn glycogen metabolism disorder caused by deficiency of hepatic phosphorylase, associated with an enlarged liver and mild hypoglycaemia.
		Rare, inheritable, disturbance of the fatty metabolism induced by a lysosomal enzyme deficiency with accumulation of ceramide in the tissues.
	www.whonamedit.com /syndlist.cfm/29 (1183 words)

	Inborn Errors of Metabolism - Disorders of Amino Acid Metabolism, Disorders of Carbohydrate Metabolism
		Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food (carbohydrates, proteins, and
		Inborn errors of metabolism often require diet changes, with the type and extent of the changes dependant on the specific metabolic disorder.
		The particular enzyme absence or inactivity for each inborn error of metabolism dictates which components are restricted and which are supplemented.
	www.faqs.org /nutrition/Hea-Irr/Inborn-Errors-of-Metabolism.html (1210 words)

	untitled (Site not responding. Last check: 2007-11-06)
		Following examination of the relatives of these patients, he related biochemistry to genetics by concluding that the metabolic defects in the individuals he studied were inherited as a recessive trait and that the activity of an enzyme was decreased or stopped altogether.
		In Glycerol metabolism, the glycerol is released and covert to glycerol-3-phosphate by glycerol kinase in the liver.
		Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is an autosomal recessively inherited metabolic disorder caused by a deficiency in the mitochondrial BCKDC.(4,12) This metabolic block results in increased concentrations of branched-chain amino acids and a-ketoacids in the blood, tissues, and urine of MSUD patients.
	opbs.okstate.edu /~leach/Bioch5853/Minireviews/minireviews_2.1997.html (9435 words)

	Patent 6,503,530 (Site not responding. Last check: 2007-11-06)
		Neonatal-onset of inborn metabolic disorders often manifest extremely severe hyperammonemia and/or ketoacidosis leading to permanent neurologic damage unless a prompt and aggressive treatment is pursued.
		However, the present invention is intended to be used to reduce the severity of metabolic disorder and not as a method of treating inborn metabolic disorders.
		Typically, the severity is reduced to a level such that the metabolically abnormal infant is capable of responding to treatment with medical foods for use in the nutritional support of an infant having the inherited metabolic disorder with or without other interventions.
	www.pharmcast.com /Patents/Yr2003/Jan2003/010703/6503530_Metabolism010703.htm (2837 words)

	MDDA
		Inborn errors of metabolism, abbreviated to IEM (or metabolic disorders) result when a particular enzyme does not work properly.
		Metabolic Disorders are usually grouped according to the type of food that cannot be broken down properly.
		Metabolic disorders are genetic conditions, usually inherited as a recessive trait from both parents (meaning both parents carry the gene and all their children will have a one in four or 25% chance of inheriting the metabolic disorder).
	www.mdda-australia.org /printpgs/dissorders.html (982 words)

	Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation -- Gray et al. ... (Site not responding. Last check: 2007-11-06)
		Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation -- Gray et al.
		Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation
		Cerebrotendinous xanthomatosis is a disorder of bile acid metabolism due to a deficiency of mitochondrial sterol 27-hydroxylase.
	jnnp.bmjjournals.com /cgi/content/full/69/1/5 (2498 words)

	Neonatal screening for inborn errors of metabolism: a systematic review
		To prepare an objective summary of the evidence on the appropriateness and need for various existing and possible neonatal screening programmes for inborn errors of metabolism in relation to the natural history of these diseases.
		It has the potential for simultaneous multi-disease screening for selected disorders of amino acid and organic acid metabolism using a single analytical technique and is complementary to immunoassay-based methods for congenital hypothyroidism (CH) and CAH screening.
		If the neonatal screening programme is to be expanded a clinical and supportive infrastructure for paediatric metabolism urgently needs to be established to provide adequate treatment and care for identified patients and their families.
	www.hta.nhsweb.nhs.uk /execsumm/SUMM111.HTM (1640 words)

	Inborn errors of metabolism Information on Healthline
		Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally.
		Several inborn errors of metabolism cause mental retardation if not controlled.
		Inborn errors of metabolism often demand diet changes.
	www.healthline.com /adamcontent/inborn-errors-of-metabolism (540 words)

	Inborn error of metabolism - what is inborn error of metabolism
		Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms inborn error of metabolism disorder are considered synonymous.
		Traditionally the inherited what is inborn error of metabolism metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.
		In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care inborn error of metabolism + correctable abnormalities was simply management of complications.
	www.medicalgeo.com /Med-Diseases-I---K/Inborn-error-of-metabolism.html (767 words)

	Betaine and Betaine Hydrochloride
		A second type of inborn error of metabolism resulting in homocystinuria is due to deficiency of 5,10-methylenetetra__hydrofolate reductase.
		The third type of inborn error of metabolism that can result in homocystinuria is due to a defect in the synthesis of methylcobalamin, the cofactor in the methionine synthase reaction.
		The principal metabolic reaction is the transfer of a methyl group from betaine to homocysteine via the enzyme betaine-homocysteine methyltransferase.
	www.pdrhealth.com /drug_info/nmdrugprofiles/nutsupdrugs/bet_0331.shtml (1663 words)

	Dorlands Medical Dictionary
		The activity and metabolism of ergocalciferol are similar to those of cholecalciferol (q.v.).
		of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth (e.g., phenylketonuria) or in later life (e.g., diabetes mellitus); called also enzymopathy.
		reproducible inaccuracy; error in a measurement process that is predictable or in the same direction in all measurements; it may not be detectable by statistical methods.
	www.mercksource.com /pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd_e_14zPzhtm (2548 words)

	eMedicine - Pediatrics, Reye Syndrome : Article Excerpt by: Debra L Weiner, MD, PhD (Site not responding. Last check: 2007-11-06)
		Although the etiology of Reye syndrome is unknown, the condition typically occurs after a viral illness, particularly an upper respiratory tract infection (URTI), influenza, varicella, or gastroenteritis, and it is associated with the use of aspirin during the illness.
		The discovery of inborn errors of metabolism that have manifestations similar to those of Reye syndrome and a dramatic decrease in the use of aspirin among children have made the diagnosis and occurrence of Reye syndrome rare.
		Inborn errors that may mimic Reye syndrome include fatty-acid oxidation defects, amino and organic acidopathies, urea-cycle defects, and disorders of carbohydrate metabolism.
	www.emedicine.com /emerg/byname/pediatrics-reye-syndrome.htm (614 words)

	Metabolism Awareness inborn error of metabolism in albinism (Site not responding. Last check: 2007-11-06)
		Metabolism Awareness inborn error of metabolism in albinism
		When you're trying to find the best advice about inborn error of metabolism in albinism, you'll find it hard seperating quality info from unadvised inborn error of metabolism in albinism suggestions or help so it's astute to know how to qualify the advice you are presented with.
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	metabolism-awareness.info /inborn-error-of-metabolism-in-albinism.htm (134 words)

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