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Methylmalonic acidemia

Also Known As:
Acidemia, methylmalonic
Networked: 203 relevant articles (0 outcomes, 10 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Ye, Jun: 7 articles (03/2015 - 06/2004)
2. Sloan, Jennifer L: 6 articles (09/2015 - 01/2013)
3. Venditti, Charles P: 6 articles (09/2015 - 01/2013)
4. Wajner, Moacir: 6 articles (07/2011 - 09/2003)
5. Wang, Yu: 5 articles (03/2015 - 12/2007)
6. Manoli, Irini: 4 articles (09/2015 - 08/2013)
7. Rosenblatt, David S: 4 articles (09/2013 - 05/2008)
8. Qiu, Wen-juan: 4 articles (03/2013 - 06/2004)
9. Gu, Xue-fan: 4 articles (03/2013 - 06/2004)
10. Han, Lian-shu: 4 articles (03/2013 - 06/2004)

Related Diseases

1. Propionic Acidemia
2. Tyrosinemias (Tyrosinemia)
06/11/2011 - "the sick infants tested in this study had high prevalence rates of neonatal intrahepatic cholestasis, methylmalonic acidemia, hyperphenylalaninemia, tyrosinemia type I, and urea cycle disorders. "
01/01/2007 - "Spectra obtained from the study of urine samples from individual patients with argininosuccinic aciduria (ASA), classic homocystinuria (HCY), classic methylmalonic acidemia (MMA), maple syrup urine disease (MSUD), phenylketonuria (PKU) and type II tyrosinemia (TYRO) were compared with six control patient urine samples using principal component analysis (PCA). "
02/01/2008 - "Fifteen cases (11.5%) were confirmed as having inborn errors of metabolism, including 6 cases of methylmalonic acidemia, 2 of propionic academia, 2 of Type II citrullinemia, 1 of biotinidase deficiency, 1 of tyrosinemia, 1 of maple syrup urine disease, 1 of omithine transcarbamylase deficiency and 1 of very long chain Acyl CoA dehydrogenase deficiency. "
11/01/2005 - "Disorders included Wilson disease (WD, n = 21), ornithine transcarbamylase deficiency (OTCD, n = 6), tyrosinemia type I (TTI, n = 6), glycogen storage disease (GSD, n = 4), propionic acidemia (PPA, n = 3), methylmalonic acidemia (MMA, n = 2), Crigler-Najjar syndrome type I (CNSI, n = 2), bile acid synthetic defect (BASD, n = 1) and erythropoietic protoporphyria (EPP, n = 1). "
08/01/2002 - "Indications included alpha-1-antitrypsin deficiency (n = 8), two cases each of hyperoxaluria type 1, Wilson's disease, hereditary tyrosinemia type I, citrullinemia, methylmalonic acidemia, and one case each of propionic acidemia, Crigler-Najjar syndrome type I, neonatal hemachromatosis, hemophilia B, Niemann-Pick disease type B, and cystic fibrosis. "
3. Homocystinuria
4. Maple Syrup Urine Disease
05/01/2012 - "Of the 50 cases, 32 cases were diagnosed with organic acidemia disease, including 28 cases of methylmalonic acidemia, 2 cases of propionic acidemia, 1 case of maple syrup urine disease and 1 case of isovaleric acldemla. "
02/01/2010 - "We analyzed the results of four focus groups including a total of 19 women between the ages of 12 and 52 years with phenylketonuria, methylmalonic acidemia, or maple syrup urine disease attending an educational summer camp in 2008. "
01/01/2007 - "Spectra obtained from the study of urine samples from individual patients with argininosuccinic aciduria (ASA), classic homocystinuria (HCY), classic methylmalonic acidemia (MMA), maple syrup urine disease (MSUD), phenylketonuria (PKU) and type II tyrosinemia (TYRO) were compared with six control patient urine samples using principal component analysis (PCA). "
12/01/2007 - "Eleven of 158 patients (7.0%) with inborn metabolic error were confirmed, including five with methylmalonic acidemia, two with propionic acidemia, one with ornithine transcarbamylase deficiency, one with maple syrup urine disease, one with phenylketonuria, and one with biotinidase deficiency. "
01/01/2015 - "The comparisons were between 1) an expanded neonatal screening programme using MS/MS screening for six prioritised diseases: phenylketonuria (PKU); isovaleric acidemia (IVA); methylmalonic acidemia (MMA); propionic acidemia (PA); maple syrup urine disease (MSUD); and multiple carboxylase deficiency (MCD); and 2) the current practice that is existing PKU screening. "
5. Metabolic Diseases (Metabolic Disease)

Related Drugs and Biologics

1. Carnitine (L-Carnitine)
2. Transferases
3. Diamond
4. Complement C5a (Complement 5a)
5. Vitamin E
6. Propionic Acids
7. Intermediate Filament Proteins
8. Hydrogen Peroxide (Hydroperoxide)
9. Complement System Proteins (Complement)
10. Histidinemia

Related Therapies and Procedures

1. Liver Transplantation
2. Transplants (Transplant)
3. Kidney Transplantation
4. Parenteral Nutrition
5. Deep Brain Stimulation