archive-org.com » ORG » O » OAANEWS.ORG

Total: 282

Choose link from "Titles, links and description words view":

Or switch to "Titles and links view".
  • (HMG) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | OAA
    2MBCD 2 Methylbutyryl CoA Dehydrogenase Deficiency HMG 3 hydroxy 3 methylglutaryl CoA lyase deficiency 3 MCC 3 methylcrotonyl CoA carboxylase deficiency MGA 3 Methylglutaconic acidemia or 3 Methylglutaconyl CoA Hydratase Deficiency 5 oxoprolinemia D2 HGA D 2 Hydroxyglutaric Aciduria GA I Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA Hydrolase Deficiency HMG 3 hydroxy 3 methylglutaryl CoA lyase deficiency HMG protocol letter in PDF 3 hydroxy 3 methylglutaryl CoA lyase deficiency also referred to as HMG CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process a particular amino acid a building block of proteins Additionally the disorder prevents the body from making ketones which are used for energy during fasting periods without food This disorder usually appears within the first year of life The signs and symptoms of HMG CoA lyase deficiency include vomiting

    Original URL path: http://www.oaanews.org/hmg.htm (2012-10-25)
    Open archived version from archive


  • (3-MCC) 3-Methylcrotonyl-CoA Carboxylase Deficiency | OAA
    Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA Hydrolase Deficiency 3 MCC 3 Methylcrotonyl CoA Carboxylase Deficiency 3 MCC protocol letter in PDF 3 methylcrotonyl CoA carboxylase deficiency is an inherited disorder in which the body is unable to process certain proteins properly People with this disorder have inadequate levels of an enzyme that helps break down proteins containing a particular building block amino acid called leucine Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood The characteristic features of this condition which can range from mild to life threatening include feeding difficulties recurrent episodes of vomiting and diarrhea excessive tiredness lethargy and weak muscle tone hypotonia If untreated this disorder can lead to delayed development seizures and coma Early detection and lifelong management following a low protein diet and using appropriate supplements may prevent many of these complications

    Original URL path: http://www.oaanews.org/3-mcc.htm (2012-10-25)
    Open archived version from archive

  • (MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency | OAA
    GA I Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA

    Original URL path: http://www.oaanews.org/mga.htm (2012-10-25)
    Open archived version from archive

  • 5-oxoprolinemia - Glutathione Synethtase Deficiency | OAA
    CoA Hydratase Deficiency 5 oxoprolinemia D2 HGA D 2 Hydroxyglutaric Aciduria GA I Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA Hydrolase Deficiency 5 oxoprolinemia Glutathione Synethtase Deficiency Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production Glutathione also plays a role in processing medications and cancer causing compounds carcinogens and building DNA proteins and other important cellular components Glutathione synthetase deficiency can be classified into three types mild moderate and severe Mild glutathione synthetase deficiency usually results in the destruction of red blood cells hemolytic anemia Rarely affected people also excrete large amounts of a compound called 5 oxoproline in their urine 5 oxoprolinuria This compound builds up when glutathione is not processed correctly in cells Individuals with

    Original URL path: http://www.oaanews.org/5-oxoprolinemia.htm (2012-10-25)
    Open archived version from archive

  • D2-HGA D-2 Hydroxyglutaric Aciduria | OAA
    GA I Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA

    Original URL path: http://www.oaanews.org/d2-hga.htm (2012-10-25)
    Open archived version from archive

  • (GA-1) Glutaric Acidemia Type 1 aka Glutaryl CoA Dehydrogenase Deficiency Type 1 | OAA
    Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA Hydrolase Deficiency GA 1 Glutaric Acidemia Type 1 aka Glutaryl CoA Dehydrogenase Deficiency Type 1 Glutaric acidemia type 1 is an inherited disorder in which the body is unable to process certain proteins properly People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine hydroxylysine and tryptophan which are building blocks of protein Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain particularly the basal ganglia which are regions that help control movement Mental retardation may also occur The severity of glutaric acidemia type 1 varies widely some individuals are only mildly affected while others have severe problems Some babies with glutaric acidemia type 1 are born with unusually large heads macrocephaly Affected individuals may have difficulty moving and may experience spasms jerking rigidity or decreased muscle tone Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse Strict dietary control may help limit progression of the neurological damage Stress caused by infection fever or other demands on the body may lead to worsening of the signs and symptoms with only partial recovery more Parent Fact Sheet on Glutaric Acidemia Type 1 by STAR G HRSA Pub Med Glutaric Acidemia Type 1 New insights for glutaric aciduria type I BRAIN Journal of Neurology

    Original URL path: http://www.oaanews.org/ga-1.htm (2012-10-25)
    Open archived version from archive

  • (ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria (IBD Deficiency) | OAA
    Aciduria GA I Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl

    Original URL path: http://www.oaanews.org/icbd.htm (2012-10-25)
    Open archived version from archive

  • (IVA) Isovaleric Acidemia aka Isovaleryl CoA Dehydrogenase Deficiency | OAA
    CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I ICBD Isobutyryl CoA Dehydrogenase Deficiency 3 Hydroxyisobutyric aciduria IVA Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia L2HGA L 2 Hydroxy glutaricaciduria MA Malonyl CoA Decarboxylase Deficiency aka Malonic Acidemia MMA Methlymalonic Acidemia BKT Mitochondrial Acetoacetyl CoA Thiolase 3 Ketothiolase MCD holocarboxylase synthetase Multiple carboxylase deficiency PA Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia HIBCH 3 Hydroxyisobutyryl CoA Hydrolase Deficiency IVA Isovaleric Acidemia aka Isovaleryl CoA Dehydrogenase Deficiency IVA protocol letter in PDF Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly People with this disorder have inadequate levels of an enzyme that helps break down the amino acid leucine a building block of proteins A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet This odor is caused by the buildup of a compound called isovaleric acid in affected individuals In about half of cases the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding vomiting seizures and lack of energy lethargy that can progress to coma These medical problems are typically severe and can be life threatening In the other half of cases the signs and symptoms of the disorder appear during childhood and may come and go over time They are often triggered by an infection or by eating an increased amount of protein rich foods more Isovaleric Acidemia Research Information A Common Mutation Is Associated with a Mild Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening by Regina Ensenauer MD Isovaleric Acidemia New Aspects of Genetic and Phenotypic Heterogeneity American Journal of Medical Genetics by Jerry Vockley MD and Regina Ensensauer MD Questionnaire Survey for the clinical outcome of the biochemically mild pheno

    Original URL path: http://www.oaanews.org/iva.htm (2012-10-25)
    Open archived version from archive