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Topic: Metabolic Disorders


In the News (Fri 17 Feb 12)

  
  Metabolic disorder - Wikipedia, the free encyclopedia
Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc. Genetic metabolic disorders are also known as inborn errors of metabolism.
In general, the genetic metabolic disorders are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell.
Mitochondrial disorders -- disorders affecting the mitochondria which are the central "powerhouses" of the cells.
en.wikipedia.org /wiki/Metabolic_disorder   (231 words)

  
 [No title]
The names and terminologies of these disorders are confusing because they were derived from the pathologic literature before their metabolic defects were discovered.
            This is a lysosomal disorder with autosomal recessive inheritance.
            Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper metabolism.
spinwarp.ucsd.edu /NeuroWeb/Text/br-500.htm   (2504 words)

  
 Treatment of Metabolic Disorders at Mayo Clinic
Treatment for metabolic disorders is tailored to each individual, and depends on numerous variables, including the type and severity of the metabolic disorder, the extent the disorder has affected the patient's brain and body functions, options for appropriate clinical trials and other considerations.
Metabolic disorders refer to a broad array of medical problems caused by inherited genetic defects that interfere with the body's metabolism.
Metabolic disorders are classified into types based on the components of the cell involved, biochemical pathways and which enzyme is affected.
www.mayoclinic.org /metabolic-disorders/index.html   (561 words)

  
 eMedicine - Inherited Metabolic Disorders : Article by Pieter R Kark, MD, MA, FAAN, FACP   (Site not responding. Last check: 2007-11-05)
Metabolism is the physiological and biochemical mechanisms by which foodstuffs are taken in by the body and converted from one form to another to provide energy for all the activities of the body.
Some inherited metabolic disorders are fatal in the first weeks or months of postnatal life, for example, severe defects in the conversion of pyruvate to acetyl coenzyme A (CoA), some urea cycle defects, and severe defects in the processing of fructose.
In the period from the 1960s to the early 1980s, research on the molecular basis of inherited disorders of metabolism assumed that these were largely due to a point mutation in the peptide chain of the relevant enzyme.
www.emedicine.com /NEURO/topic680.htm   (6139 words)

  
 Kennedy Krieger Institute: Metabolic Disorders
Genetic metabolic diseases are congenital errors of the body’s chemistry that affect the way in which food is assimilated, energy generated, and tissue growth enabled.
Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another.
Although each metabolic disease individually is rare, there are more than 1300 known metabolic diseases, and collectively they represent a significant cause of illness and disability in children.
www.kennedykrieger.org /kki_diag.jsp?pid=1093&bl=1   (381 words)

  
 DASEES   (Site not responding. Last check: 2007-11-05)
The etiology of many of those metabolic diseases that are not clinically apparent during the first 2 wk of lactation, such as laminitis, can be traced back to insults that occurred during early lactation.
Milk fever is a complex metabolic disorder that occurs at the onset of lactation.
The transition from the pregnant, nonlactating state to the nonpregnant lactating state is too often a disastrous experience for the dairy cow, as is evidenced by the high incidence of metabolic and infectious disease that occur during this period.
www.fass.org /dasees/dairyproduction/Metabolic_Disorders.htm   (2514 words)

  
 Introduction: Hereditary Metabolic Disorders: Merck Manual Home Edition
Metabolic disorders are classified by the particular building block that is affected.
Some hereditary disorders of metabolism (such as phenylketonuria and the lipidoses) can be diagnosed in the fetus using amniocentesis or chorionic villus sampling (see Genetic Disorders Detection: Chorionic Villus Sampling).
Usually, the diagnosis of a hereditary disorder of metabolism is made using a blood test or an examination of a tissue sample to determine whether a specific enzyme is deficient or missing.
www.merck.com /mmhe/sec23/ch282/ch282a.html   (241 words)

  
 Diagnosis of Metabolic Disorders
Metabolic disorders are difficult to diagnose because there are thousands of them and symptoms can mimic more common diseases or conditions.
Patients diagnosed with a metabolic disorder and their families will receive counseling from medical specialists in genetics to explain the diagnosis and the role of inherited genes.
MRI may be used to determine whether the patient has a metabolic disorder or to measure how the metabolic disorder has affected the brain.
www.mayoclinic.org /metabolic-disorders/diagnosis.html   (415 words)

  
 Metabolic disorders - WrongDiagnosis.com
Metabolic disorders refers to diseases or disorders of the internal body chemistry that causes the body's metabolism.
The term metabolic disorders usually does not include hormonal disorders or endocrine disorders which refer to the interactions between body glands and hormones.
With a diagnosis of Metabolic disorders, it is also important to consider whether there is an underlying condition causing Metabolic disorders.
www.wrongdiagnosis.com /m/metabolic_disorders/intro.htm   (577 words)

  
 Diabetes & Other Endocrine and Metabolic Disorders - Lucile Packard Children's Hospital
Although many endocrine disorders that affect adults can affect children, the disorders may produce different symptoms in children.
Metabolism is the chemical activity that occurs in cells, releasing energy from nutrients or using energy to create other substances, such as proteins.
The basal metabolic rate (BMR) is a measurement of energy required to keep the body functioning at rest.
www.lpch.org /DiseaseHealthInfo/HealthLibrary/diabetes   (189 words)

  
 Metabolic syndrome signs, symptoms, causes, treatment and prevention on MedicineNet.com
An association between certain metabolic disorders and cardiovascular disease has been known since the 1940s.
In the 1980s this association became more clearly defined and the term metabolic syndrome (also known as syndrome X or the dysmetabolic syndrome) was coined to designate a cluster of metabolic risk factors that come together in a single individual.
The main features of metabolic syndrome include insulin resistance, hypertension (high blood pressure), cholesterol abnormalities, and an increased risk for clotting.
www.medicinenet.com /metabolic_syndrome/article.htm   (520 words)

  
 Metabolic Disorders Lab   (Site not responding. Last check: 2007-11-05)
More than 500 separate inborn errors of metabolism have now been identified and the cumulative incidence is estimated at 1 in 5000 births.
It is unfortunate that in India, screening and detection of this class of disorders has not been given the attention it deserves.
The AIMS Metabolic Disorders Laboratory provides general neonatal screening and detection of various metabolic disorders.
www.aimshospital.org /metabolic/metabolic.html   (234 words)

  
 PKU, Gaucher, Williams syndrome, metabolic disorders | Biochemical Genetics-Metabolic Disease - Children's Hospital of ...
We work closely with our Metabolic Diagnostic Laboratory, a full-service laboratory specializing in diagnosing and monitoring inborn errors of metabolism, and are available to provide consultations and discuss the results of metabolic tests.
Many of these metabolic disorders give rise to multisystem diseases that require the expertise of a diverse array of specialists.
We have multispecialty clinics for complex genetic disorders to streamline the clinical care of these complex patients, to improve multispecialty care and reduce the heavy emotional and financial burden on the family and on practitioners.
www.chop.edu /consumer/jsp/division/service.jsp?id=74273   (307 words)

  
 Medical Dictionary: Metabolic disorders - WrongDiagnosis.com
Metabolic disorders (medical condition): Metabolic disorders refers to diseases or disorders of the internal body chemistry that causes the body's metabolism.
Metabolic disorders: A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.
Metabolic disorders: Metabolic disorders is listed as a type of (or associated with) the following medical conditions in our database: Systemic disorders
www.wrongdiagnosis.com /medical/metabolic_disorders.htm   (256 words)

  
 Metabolic Disorders : Epilepsy.com/Professionals
Although all patients with epilepsy have seizures, the converse is not necessarily true, particularly for patients with seizures from metabolic disturbances.
With the exception of certain inborn errors of metabolism, most acute metabolic derangements that present with seizures are treatable and reversible with specific interventions.
Because AEDs alone are generally of limited benefit, and acute metabolic derangements can be fatal if untreated, neurologists must consider this group of disorders when patients present with new-onset seizures or when patients with epilepsy have an unexplained worsening of seizure frequency or severity.
professionals.epilepsy.com /page/metabolic_disorders.html   (307 words)

  
 Metabolic Disorders Follow-up Program   (Site not responding. Last check: 2007-11-05)
This program follows patients with genetic metabolic disorders, like PKU or MSUD, long term, providing case management and dietary therapy.
All patients with these disorders residing in Maryland are eligible for service - there is no charge for the nutritionists or for case management.
The services of the Metabolic disease specialists are charged on the sliding fee scale with all types of third party payment accepted.
fha.state.md.us /genetics/html/metabolic.html   (189 words)

  
 Nutrition and Metabolic Disorders   (Site not responding. Last check: 2007-11-05)
Monitoring of blood metabolite levels for some disorders can also be done without charge to the patient by the State Laboratories Administration; monitoring of blood metabolite levels for other disorders must be done by outside laboratories and is usually covered by Medical Assistance or private health insurance.
The metabolic nutritionists at the Genetics Centers manage the special diets required by the patients with disorders of fatty acid oxidation, the urea cycle and the remaining organic acid disorders, with assistance, as requested, from the nutritionists of the Metabolic Disorders Nutrition Follow-up Program.
Medical foods (formulas) and low protein modified food products for the treatment of inherited metabolic disorders are provided by Medical Assistance and Children’s Medical Services for families meeting the financial eligibility requirements of these programs.
www.fha.state.md.us /genetics/html/nutrio.html   (265 words)

  
 Hormonal Disorders: Hormonal Metabolic Disorders
A hormone is a substance made by one tissue and carried by the bloodstream to a target tissue.
Metabolism refers to the physical and chemical processes that occur within our body that are necessary for life.
If you have a hormone disorder, your symptoms will vary based upon the affected tissue.
www.baptistonline.org /health/library/horm4704.asp   (197 words)

  
 BSP :: Endocrine, Metabolic & Immune Disorders - Drug Targets
This journal is devoted to timely reviews of experimental and clinical studies in the field of endocrine, metabolic, and immune disorders.
Specific emphasis is placed on humoral and cellular targets for natural, synthetic, and genetically engineered drugs that enhance or impair endocrine, metabolic, and immune parameters and functions.
Topics related to the neuroendocrine-immune axis are given special emphasis in view of the growing interest in stress-related, inflammatory, autoimmune, and degenerative disorders.
www.bentham.org /cdtiemd/index.htm   (127 words)

  
 UK Medix > News > Acomplia Could Also Work For Metabolic Disorders
However in the small print of the application to the FDA it says that Acomplia is for obesity, metabolic disorders and smoking cessation.
The application for metabolic disorders could be a ruse to have the drug covered by health insurance policies should it be OK'ed by the FDA.
At present not much is known about whether the relevant authorities favour the approval of Acomplia for the metabolic disorders in the US and in Europe.
www.ukmedix.co.uk /acomplia/acomplia-metabolic.cfm   (314 words)

  
 Metabolic Dietary Disorders Association, Australia.
The MDDA is a self-help, not-for-profit, family-support group that was set up in 1996 to assist members and their families with the complex issues in dealing with metabolic dietary disorders.
We are Australians from a variety of backgrounds who have had personal experiences in dealing with an inborn error of metabolism.
There are many excellent conferences on inborn errors of metabolism and related conditions for the general public, carers and health care professionals.
www.mdda-australia.org   (271 words)

  
 Metabolic genetic conditions
, cystinosis, diabetes insipidus, Fabry, fatty acid metabolism disorders, galactosemia, Gaucher, glucose-6-phosphate dehydrogenase (G6PD), glutaric aciduria, Hurler, Hurler-Scheie, Hunter, hypophosphatemia, I-cell,
Belgian Support Group for Children with Metabolic Disorders
James William Lazzaro Foundation for Genetic Metabolism Disorders
www.kumc.edu /gec/support/metaboli.html   (329 words)

  
 Nutritional and Metabolic Diseases
Metabolic Diseases and Stroke: Homocystinuria/Homocysteinemia [Mandava and Kent] - eMedicine
On The Peroxisomal Disorders [J and M Stephens]
The British Inherited Metabolic Diseases Group and the Society for the Study of Inborn Errors of Metabolism - (UK)
www.mic.ki.se /Diseases/c18.html   (1742 words)

  
 Metabolic Diseases - Thesaurismosis - information page with HONselect
Definition: Generic term for diseases caused by an abnormal metabolic process.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
')" OnMouseOut="HideBulle()" class='menudesc' >METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver.
www.hon.ch /HONselect/Selection/C18.452.html   (373 words)

  
 DermAtlas: Online Dermatology Image Library dermatology image,confluent and reticulated papillomatosis (of Gougerot and ...   (Site not responding. Last check: 2007-11-05)
Confluent and reticulated papillomatosis of Gougerot and Carteaud is an unusual condition, resembling acanthosis nigricans but with a more central distribution.
The etiology is unclear, but some authors have implicated Pityrosporum and metabolic disturbances, while other patients clearly show a familial component.
The histology in this case is typical, but it is nonspecific, as the acanthosis, papillomatosis, and hyperkeratosis can be seen in seborrheic keratoses, acanthosis nigricans, epidermal nevi, and others.
dermatlas.med.jhmi.edu /derm/result.cfm?Category=-1595790332   (1001 words)

  
 Metabolic Disorders
Support for parents of children diagnosed with congenital disorders of glycosylation, an inherited metabolic disease affecting all body parts, especially the central and peripheral nervous systems.
Support for persons affected by purine metabolic disorders caused by a defective gene resulting in the production of an enzyme with too little to too much catalytic activity.
Purine metabolic diseases include gout, purine autism, Lesch-Nyhan syndrome, ADA deficiency, and others.
www.webmd.com /hw/weight_control/shc29met.asp   (438 words)

  
 USMLE - United States Medical Licensing Examination   (Site not responding. Last check: 2007-11-05)
Thyroid disorders (eg, nodule; carcinoma; acquired hypothyroidism; thyroiditis; thyrotoxicosis; congenital hypothyroidism; goiter)
Parathyroid and calcium disorders (eg, hyperparathyroidism; hypoparathyroidism), and hypoglycemia and hyperinsulinism (eg, iatrogenic; insulinoma)
Adrenal disorders (eg, corticoadrenal insufficiency; Cushing syndrome; adrenogenital syndrome; hyperaldosteronism; pheochromocytoma)
www.usmle.org /step2/s2endo.htm   (87 words)

  
 Neurologic and metabolic disorders : Epilepsy.com
Autism-PDD Resources Network: Organization for parents of children with autism or the related PDD, pervasive developmental disorder.
National Alliance for the Mentally Ill (NAMI): Support and advocacy organization working to improve the lives of people with severe mental illnesses (such as schizophrenia, major depression, bipolar disorder, obsessive-compulsive disorder, and anxiety disorders) and the lives of their families and friends.
The Arc of the United States: National organization of and for people with mental retardation and related developmental disabilities and their families.
www.epilepsy.com /epilepsy/relateddisorders_links.html   (231 words)

  
 Diabetes and Other Endocrine and Metabolic Disorders - Home Page - Diabetes and Other Endocrine and Metabolic Disorders ...   (Site not responding. Last check: 2007-11-05)
Diabetes and Other Endocrine and Metabolic Disorders - Home Page - Diabetes and Other Endocrine and Metabolic Disorders : MCG Health System
Diabetes and Other Endocrine and Metabolic Disorders - Juvenile Osteoporosis < Previous Page
For technical comments or questions regarding this web site, please contact the webmaster.
www.mcghealth.org /Greystone/peds/diabetes/index.html   (268 words)

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