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         Glutaricaciduria:     more detail

1. NORD - National Organization For Rare Disorders, Inc.
glutaricaciduria I. To purchase fulltext report ($7.50) Copyright 1987, 1990,1994, 2004 Synonyms of glutaricaciduria I Dicarboxylic Aminoaciduria;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricacidu

2. Conditions And Diseases - Glutaricaciduria Top Links
Related Healthcare Subjects. Disabilities, Environmental Health, Fitness, Health Insurance, Healthcare Industry, Medicine, Men's Health. glutaricaciduria Web Site Links. Glutaric Aciduria Type 1 Information and links for children with GA1. message board and links. NORD - glutaricaciduria I - Offers alternate names, a
http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
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Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health
Glutaricaciduria Web Site Links Glutaric Aciduria Type 1 Information and links for children with GA1.
IOGA: International Organization of Glutaric Acidemia
Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links.
NORD - Glutaricaciduria I
Offers alternate names, a general discussion and resources.
Pediatric Database
A definition of glutaric aciduria, epidemiology, pathogenesis, clinical features, investigations and management.
Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
AHRQ: Clinical Information
Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse.
The UK Health Technology Assessment Programme
Site contains details of program's many projects and publications; an NHS national research and development initiative.
U.S. Preventive Services Task Force (USPSTF)

3. NORD - National Organization For Rare Disorders, Inc.
glutaricaciduria II. Copyright 1987, 1988, 1990, 1992, 1997, 2004 Synonymsof glutaricaciduria II Electron Transfer Flavoprotein, Deficiency of;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricacidu

4. Glutaricaciduria
Fatty Oxdiation Disorders. Galactosemia. glutaricaciduria. Mineral Metabolism Disorders. Leigh's Disease links for children with GA1. NORD glutaricaciduria I - http//www.stepstn.com
http://www.medlina.com/glutaricaciduria.htm
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Glutaricaciduria IOGA: International Organization of Glutaric Acidemia - http://www.glutaricacidemia.org Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links. Pediatric Database - http://www.icondata.com A definition of glutaric aciduria, epidemiology, pathogenesis, clinical features, investigations and management. Glutaric Aciduria Type 1 - http://www.ga1.freeservers.com Information and links for children with GA1. NORD - Glutaricaciduria I - http://www.stepstn.com Offers alternate names, a general discussion and resources. SUBCATEGORIES Up Search Now: info@medlina.com

5. Glutaricaciduria - Information / Diagnosis / Treatment / Prevention
home genetic disorders glutaricaciduria glutaricaciduria. NORD glutaricaciduriaI Offers alternate names, a general discussion and resources.
http://www.healthcyclopedia.com/genetic-disorders/glutaricaciduria.html

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Health News: Search millions of published articles for news on Glutaricaciduria Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Glutaric Aciduria Type 1 Information and links for children with GA1. IOGA: International Organization of Glutaric Acidemia Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links. NORD: Glutaricaciduria I Offers alternate names, a general discussion and resources.

6. Glutaricaciduria I
glutaricaciduria is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutarylCoA dehydrogenase. One of a group of disorders known as "organic acidemias " it is Babies
http://hw.healthdialog.com/kbase/nord/nord383.htm
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National Organization for Rare Disorders, Inc.
Glutaricaciduria I
Important
It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • Dicarboxylic Aminoaciduria GA I Glutaric Acidemia I Glutaric Aciduria I Glutaricacidemia I Glutaryl-CoA Dehydrogenase Deficiency Glutaurate-Aspartate Transport Defect
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Glutaricaciduria IIA (GA IIA) Glutaricaciduria IIB (GA IIB)
General Discussion
Glutaricaciduria is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation may also occur.
Symptoms
Babies with Glutaricaciduria usually appear normal at birth. During the first year of life decreased muscle tone (hypotonia), vomiting, and acidity of the blood may occur. Taking on strange positions due to disordered muscle tone (dystonia), involuntary and ceaseless slow, sinuous, writhing (athetotic) or jerky (choreic) movements of the trunk and limbs may also occur in combination with mental retardation.

7. Disease Directory : Genetic Disorders : Glutaricaciduria
Antenatal diagnosis of glutaricaciduria type II. Antenatal diagnosisof glutaricaciduria type II. glutaricaciduria - glutaricaciduria.
http://www.diseasedirectory.net/Genetic_Disorders/Glutaricaciduria/default.aspx
Wednesday, June 02, 2004 Genetic Disorders
Aarskog Syndrome

Aase Syndrome

Ablepharon-Macrostomia Syndrome
... Genetic Disorders : Glutaricaciduria

8. AllRefer Health Health Links Directory Conditions And Diseases
.com Health Health Directory Conditions and Diseases Genetic Disorders glutaricaciduria (4 NORD glutaricaciduria I. Offers alternate names, a general discussion and resources
http://www.1uphealth.com/links/genetic-disorders-glutaricaciduria.html

9. Disease Directory : Glutaricaciduria
glutaricaciduria....... Diseases Genetic Disorders glutaricaciduria glutaricaciduria. DirectoryListing. Title glutaricaciduria
http://www.diseasedirectory.net/detailed/25006.aspx
Wednesday, June 02, 2004 Genetic Disorders
Aarskog Syndrome

Aase Syndrome

Ablepharon-Macrostomia Syndrome
... Glutaricaciduria : Glutaricaciduria
Directory Listing
Title: Glutaricaciduria
Description: Glutaricaciduria. NORD - Glutaricaciduria I - http://www.stepstn.com Offers alternate names, a general discussion and resources. SUBCATEGORIES. Up. Search Now:
Date Added: 2/16/2004 2:20:52 PM
URL: http://www.medlina.com/glutaricaciduria.htm

10. Glutaricaciduria II
glutaricaciduria II Important It is possible that the main title ofthe report glutaricaciduria II is not the name you expected.
http://my.webmd.com/hw/raising_a_family/nord378.asp
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Health Topics Symptoms ... For a Complete Report Glutaricaciduria II Important It is possible that the main title of the report Glutaricaciduria II is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • GA II Glutaric Acidemia II Glutaric Aciduria II Glutaricacidemia II
Disorder Subdivisions
  • Glutaricaciduria, Type IIA GA IIA Multiple Acyl-CoA Dehydrogenase Deficiency Glutaricaciduria, Type IIB Ethylmalonic Adipicaciduria GA IIB
General Discussion There are two forms of Glutaricaciduria II which occur during different stages of life. They are both forms of organic acidemias which are a group of metabolic disorders characterized by excess acid in the blood and urine. 1) Glutaricaciduria IIA (GA IIA), Neonatal Form of Glutaricaciduria II. This neonatal form of Glutaricaciduria II is a very rare, sex-linked hereditary disorder characterized by large amounts of glutaric and other acids in blood and urine. Some researchers believe the disorder is caused by a defect in the breakdown of acyl-CoA compounds.

11. Mitochondrial Disorders
muscular dystrophy with mitochondrial structural abnormalities. glutaricaciduria IIA ( MADD) HydroxyacylCoA Dehydrogenase
http://www.neuro.wustl.edu/neuromuscular/mitosyn.html

Front
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MITOCHONDRIAL DISORDERS
Biochemical Pathways
Fatty acid oxidation

Oxidative phosphorylation

Mitochondria
General features

Mitochondrial DNA (mtDNA)
General Features

Mutations

Nuclear encoded proteins
General Features
Mutations Mitochondrial disorders Biochemical classification ... Clinical syndromes Evaluation Clinical Signs Laboratory General mechanisms Mutation types ... Functional defects Pathology Histology Ultrastructure
Mitochondria: General
Origin of mitochondria
  • Primordial eukaryotic cells lacked ability to use oxygen metabolically
    • Colonized by aerobic bacteria Intracellular aerobic bacteria
      • Added oxidative metabolism to cells Evolved into mitochondria
      Time: 10 years ago
    Structural features of mitochondria: 4 compartments
    • Outer membrane Inner membrane: Composed predominantly of cardiolipin Matrix: Region inside inner membrane
    Mitochondrial DNA (mtDNA)
    • Only organelle other than nucleus with own DNA Different structure than nuclear DNA
    Functions of mitochondria
    • Pyruvate oxidation: Disorders Krebs cycle Metaboloism: Amino acids;

12. Glutaricaciduria I
glutaricaciduria I Important It is possible that the main title of thereport glutaricaciduria I is not the name you expected. Please
http://my.webmd.com/hw/raising_a_family/nord383.asp
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Health Topics Symptoms ... For a Complete Report Glutaricaciduria I Important It is possible that the main title of the report Glutaricaciduria I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Dicarboxylic Aminoaciduria GA I Glutaric Acidemia I Glutaric Aciduria I Glutaricacidemia I Glutaryl-CoA Dehydrogenase Deficiency Glutaurate-Aspartate Transport Defect
Disorder Subdivisions
  • None
General Discussion Glutaricaciduria is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation may also occur. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

13. Cardiac + Myopathy; Cardiomyopathy
Multiple acylCoA dehydrogenase deficiency (MADD; glutaricaciduria IIA) l Electron transfer flavoprotein,
http://www.neuro.wustl.edu/neuromuscular/msys/cardiac.html

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CARDIAC + MYOPATHY
Amyloid
Cardiomyopathies
Dilated

Hypertrophic

Isolated

Carnitine Disorders
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Drugs

Dystrophies
Barth

Desmin
Dystrophinopathies Emery-Dreifuss ... Acid Maltase (Infantile) Branching enzyme Debrancher Lamp-2 Triosephosphate isomerase ... SRP Also see: Selective disorders of cardiac muscle
Carnitine Disorders
Biochemistry Fatty acid oxidation pathways General principles Multiple acyl–CoA dehydrogenase deficiency Reduced Muscle carnitine uptake ... CPT II deficiency Carnitine
  • Carnitine metabolism: General principles
    • Carnitine
      • Source
        • Dietary 75%
        Distribution: 90% in muscle
    • Fatty acids are transported from cytoplasm to mitochondria
      • Conversion of fatty acids to Fatty acid-CoA
      Mitochondrial oxidation of fatty acids provides energy source
    • Chief energy sources for: Prolonged fasting; Skeletal muscle during exercise; Cardiac muscle
    • Types of deficiency
      • Primary: Due to deficient transport of carnitine into cells
      • Secondary
        • Free carnitine acyl-carnitine esters Lost in urine
        Loss of carnitine results in
        • Reduced Buffering of toxic acyl-CoA esters
        • Inhibition of mitochondrial systems
      • Clinical features: General
        • Coma after a period of starvation
        • Hypoketosis: Low serum ketone concentrations
        • Cardiomyopathy
        • Muscle weakness
      • Specific enzyme defects can include
      • Carnitine deficiency: Myopathic Form l ? Autosomal Recessive

14. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/
News about glutaricaciduria More news about glutaricaciduria . Booksabout glutaricaciduria More books about glutaricaciduria .
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Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Genetic Disorders Glutaricaciduria (4 links) See Also: News about Glutaricaciduria [ More news about Glutaricaciduria Books about Glutaricaciduria [ More books about Glutaricaciduria Links about Glutaricaciduria

15. Health Library -
glutaricaciduria I. glutaricaciduria is a rare hereditary metabolic disorder,caused by a deficiency of the enzyme glutarylCoA dehydrogenase.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

16. Health Library -
glutaricaciduria II. Important It is possible that the main title ofthe report glutaricaciduria II is not the name you expected.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

17. Glutaricaciduria II
glutaricaciduria II. General Discussion. There are two forms of glutaricaciduriaII which occur during different stages of life. They
http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord378

18. Glutaricaciduria II
There are two forms of glutaricaciduria II which occur during differentstages of life. They urine. 1) glutaricaciduria IIA (GA.
http://www.bchealthguide.org/kbase/nord/nord378.htm
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National Organization for Rare Disorders, Inc.
Glutaricaciduria II
Important
It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • GA II Glutaric Acidemia II Glutaric Aciduria II Glutaricacidemia II
Disorder Subdivisions
  • Glutaricaciduria, Type IIA GA IIA Multiple Acyl-CoA Dehydrogenase Deficiency Glutaricaciduria, Type IIB Ethylmalonic Adipicaciduria GA IIB
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Glutaricaciduria I Medium Chain CoA Dehydrogenase Deficiency (MCAD)
General Discussion
There are two forms of Glutaricaciduria II which occur during different stages of life. They are both forms of organic acidemias which are a group of metabolic disorders characterized by excess acid in the blood and urine.
1) Glutaricaciduria IIA (GA IIA), Neonatal Form of Glutaricaciduria II. This neonatal form of Glutaricaciduria II is a very rare, sex-linked hereditary disorder characterized by large amounts of glutaric and other acids in blood and urine. Some researchers believe the disorder is caused by a defect in the breakdown of acyl-CoA compounds.

19. Non Ketotic Hyperglycinemia
(For more information on this disorder, choose Methylmalonic Acidemia as yoursearch term in the Rare Disease Database.) glutaricaciduria II (Glutaric
http://www.bchealthguide.org/kbase/nord/nord520.htm
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National Organization for Rare Disorders, Inc.
Non Ketotic Hyperglycinemia
Important
It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms
  • Glycinemia, Nonketotic Hyperglycinemia, Nonketotic
Disorder Subdivisions
  • None
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
  • Acidemias, Methylmalonic Isovaleric Acidemia Glutaricaciduria II Maple Syrup Urine Disease Propionic Acidemias
General Discussion
Non-Ketotic Hyperglycinemia is a genetic disorder characterized by an error of amino acid metabolism. Large amounts of the amino acid glycine tend to accumulate in body fluids particularly in the cerebrospinal fluid. The metabolic block occurs in the conversion of glycine into smaller molecules. Severe illness usually occurs soon after birth and many patients become mentally retarded and/or develop seizure disorders.
Symptoms
Non-Ketotic Hyperglycinemia is characterized early in life by severe illness, failure to thrive, low muscle tone (hypotonia), and drowsiness or lethargy. Mental retardation may develop, relatively mild in some cases, but usually severe. Seizures, usually with jerking motions (myoclonus) may also occur. The amount of glycine in blood, urine and cerebrospinal fluid is extremely high.

20. Swiss-Prot Keyword: Glutaricaciduria
Genetic Disorders, glutaricaciduria Submit Your Site to the glutaricaciduria category. Sponsored glutaricaciduriaSites. Submit Your Site to the glutaricaciduria category. Sponsored Results.
http://ca.expasy.org/cgi-bin/get-entries?KW=Glutaricaciduria

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