BIND - The Biomolecular Interaction Network ETFB deficiencies have been implicated in type II glutaricaciduria. BLAST Evalueto experimental molecule = 1.00e300. NCBI GenInfo Id, 4503609 http://bind.ca/Action?pg=3001&identifier=bindid&idsearch=75825
Inborn Errors Of Metabolism: Organic Acidemia Association L2-Hydroxy-glutaricaciduria (L2HGA) L-2-hydroxyglutaricaciduria Thisautosomal-recessive inherited defect is characterized by excessive excretion of http://www.oaanews.org/definitions.asp
Extractions: Newsletters Questionnaire Sites of Interest GeneClinics Organic Acidemia Overview OAA Brochure What is Organic Acidemia? Definitions of various Organic Acid Disorders Board of Directors Contact Info Practical Nutritional Considerations Insurance Formula/Meds Information Info on Isovaleric Acidemia in Spanish OAA Holiday Donation Card Ketone Utilization Disorder Spanish Info This is a group of autosomal recessive conditions with exceedingly limited incidences. If this disorder is untreated, it is likely to result in death during childhood. Symptoms may include metabolic acidosis, hypoglycemia, sensitivity to dietary leucine, carnitine deficiency, hepatomegaly, fever, somnolence, and coma. Treatment involves restriction of leucine, supplementary glucose to prevent hypoglycemia, and carnitine supplementation.
The Family Village / Fatty Oxidation Disorders VLCAD Very Long Chain Trifunctional Protein Deficiency, ETF DehydrogenaseDeficiency glutaricaciduria II, EFT Deficiency HMG. *Who to Contact http://www.familyvillage.wisc.edu/lib_mcad.htm
Extractions: E-mail: admin@fodsupport.org The Fatty Oxidation Disorder Family Support Group provides emotional support, networking, and professional referrals to families coping with a child's fatty oxidation disorder through a letters and phone calls. FOD serves parents of children with fatty oxidation disorders, professional researchers who are testing for, or interested in these disorders. They provide family list to those who wish to contact others coping with this disorder. FOD Email Mailing List
Extractions: Position Human Gene Name (Disease Name) Emphysema due to alpha-2-macroglobulin deficiency Alzheimer disease, susceptibility to; Emphysema due to alpha-2-macroglobulin deficiency Alpha-1-antichymotrypsin deficiency serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 Tangier disease ATP-binding cassette, sub-family A (ABC1), member 1 Cone-rod dystrophy 3 ATP-binding cassette, sub-family A (ABC1), member 4 Leukemia, chronic myeloid v-abl Abelson murine leukemia viral oncogene homolog 1 ACADL Acyl-CoA dehydrogenase, long chain, deficiency of acyl-Coenzyme A dehydrogenase, long chain ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
Extractions: document.write(sFormElements) Forside Index SSI's websted Kontakt ... Publikationer MULTIPEL ACYL-CoA DEHYDROGENERINGSDEFEKT (MADD) Synonymer Glutarsyreuri type 2. Ætiologi Autosomal recessivt arvelig mangel på et af de elektrontransporterende flavoproteiner ETF eller ETF-QO. Symptomernes sværhedsgrad afhænger af defektens sværhedsgrad. Alle dehydrogenaser der overfører elektroner til flavoproteiner har mere eller mindre nedsat aktivitet. Der ophobes derfor talrige acylkarnitiner, acylglyciner og organiske syrer. Incidens Ukendt. På verdensplan beskrevet mindst 50 tilfælde - her i landet ca. 10. Klinik I svære tilfælde debut i neonatalperioden med svær metabolisk acidose, hypoketotisk hypoglykæmi og hepatomegali. Dødelig udgang i løbet af dage eller måneder, evt. med kardiomyopati. Samme symptomer ses hos en gruppe patienter som desuden har medfødte misdannelser: dysmorfe ansigtstræk, defekt abdominalmuskulatur, hypospadi og nyrecyster. Lettere tilfælde har periodiske symptomer debuterende måneder eller år gamle med opkastninger, acidose og hypoglykæmi. Behandling Glukose i.v. ved akutte episoder. Proteinrestriktion og fedtfattig diæt, hyppige måltider, riboflavin og karnitin.
General Description References Comments Links Keywords Features DISEASE, Defects in ETFA are the cause of glutaric aciduria typeIIA (GAIIA) MIM231680; also known as glutaricaciduria IIA. http://srs.ebi.ac.uk/srs5bin/cgi-bin/wgetz?-e [SWISSPROT-ID:'ETFA_HUMAN']
