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342 Possible Causes for Glutaric Aciduria Type 2

  • Glutaric Aciduria Type 2

    Acylcarnitine profiling led to the diagnosis of glutaric aciduria type 2.[ncbi.nlm.nih.gov] Abstract Glutaric aciduria type 2 is increasingly being identified through expanded newborn screening programs by tandem mass spectrometry with a goal of decreasing morbidity[ncbi.nlm.nih.gov] Abstract The urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency[ncbi.nlm.nih.gov]

  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency

    Homepage Rare diseases Search Search for a rare disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Disease definition 3-hydroxy-3-methylglutaryl-CoA synthase deficiency[orpha.net] Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Johannes Zschocke MD PhD (Dr.[medlink.com] Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency: Urinary Organic Acid Profiles And Expanded Spectrum Of Mutations نويسندگان: [ James J.[scipers.com]

  • Glutaric Aciduria

    Here we report an infant with glutaric aciduria type 2.[journals.lww.com] aciduria, type 2 Clinical Information A rare autosomal recessive inherited metabolic disorder caused by mutations in the etfa, etfb, and etfdh genes.[icd10data.com] Glutaric aciduria type 2 was diagnosed based on these clinical findings and laboratory results.[journals.lww.com]

  • Familial Hypercholesterolemia

    Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 2 Mitochondrial Complex I Deficiency 16 Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 3 Mitochondrial Complex[preventiongenetics.com] 1 Glutaric Aciduria, Type 1 2 Glutaric Aciduria, Type 2 9 Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 1 Gluthathione Synthetase Deficiency[preventiongenetics.com] 1 Glioma Susceptibility 3 1 Glomerulopathy With Fibronectin Deposits 2 1 Glomerulosclerosis, Focal Segmental, 7 2 Glut1 Deficiency Syndrome 1 5 Glut1 Deficiency Syndrome 2[preventiongenetics.com]

  • Familial Recurrent Peripheral Facial Palsy

    […] acidemia type 1 Glutaric acidemia type 2 Glutaric acidemia type 3 Glutaric aciduria type 1 Glutaric aciduria type 2 Glutaric aciduria type 2, mild type Glutaric aciduria[orpha.net] type 2, severe neonatal type Glutaric aciduria type 3 Glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA oxidase deficiency Glutaryl-coenzyme A dehydrogenase deficiency Glutathione[orpha.net] Glucose-galactose malabsorption Glucose transport disorder Glucose transporter type 1 deficiency Glucosidase 1 deficiency Glucosyltransferase 1 deficiency Glucosyltransferase 2[orpha.net]

  • Recurrent Acute Pancreatitis

    Coskun et al. in 1997 in Ankara presented a 2-year-old girl with coma. Her urine analysis showed glutaric aciduria Type II. Pancreatitis was diagnosed at autopsy.[atmph.org]

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    […] acidemia type 2 Glutaric aciduria, type 2 Ketone metabolism disorder Long chain 3-hydroxyacyl-coa dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency Long[icd9data.com] aciduria type II). 2 The first true cases were reported in 1987 in two neonates. 3 Biochemically, the disorder is characterized by elevated excretion of ethylmalonic and[doi.org] aciduria type II Or: 2015/16 ICD-10-CM E71.314 Muscle carnitine palmitoyltransferase deficiency Or: 2015/16 ICD-10-CM E71.318 Other disorders of fatty-acid oxidation Approximate[icd9data.com]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency HMG-CoA Synthase Deficiency 3-Hydroxyisobutyric Aciduria 6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency PTPS Deficiency[climb.org.uk] 2 Glutaric acidemia type 3 Glutaric aciduria type 1 Glutaric aciduria type 2 Glutaric aciduria type 2, mild type Glutaric aciduria type 2, severe neonatal type Glutaric aciduria[orpha.net] 1 Deficiency Glutamate Formimotransferase Deficiency Glutamine Synthetase Deficiency Glutaric Aciduria Type 1 GA1 Glutaric Aciduria Type 2 GA2 / MADD / Multiple-acyl-CoA[climb.org.uk]

  • Subdural Hematoma

    Glutaric aciduria type I (GA-I) secondary to deficiency of glutaryl CoA dehydrogenase is an inborn error of lysine, hydroxylysine, and tryptophan metabolism that may occur[pediatrics.aappublications.org] […] as frequently as 1:30,000 newborns. 2 … View Full Text Log in using your username and password Log in through your institution You may be able to gain access using your login[pediatrics.aappublications.org]

  • Dilated Cardiomyopathy Type 2B

    Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 2 Mitochondrial Complex I Deficiency 16 Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 3 Mitochondrial Complex[preventiongenetics.com] 1 Glutaric Aciduria, Type 1 2 Glutaric Aciduria, Type 2 9 Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 1 Gluthathione Synthetase Deficiency[preventiongenetics.com] 1 Glioma Susceptibility 3 1 Glomerulopathy With Fibronectin Deposits 2 1 Glomerulosclerosis, Focal Segmental, 7 2 Glut1 Deficiency Syndrome 1 5 Glut1 Deficiency Syndrome 2[preventiongenetics.com]

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