Page last updated: 2024-10-18

glutaric acid and Maple Syrup Urine Disease

glutaric acid has been researched along with Maple Syrup Urine Disease in 3 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

Maple Syrup Urine Disease: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)

Research Excerpts

ExcerptRelevanceReference
"The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3)."3.80Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. ( Arvinda, HR; Bharath, MM; Bindu, PS; Gayathri, N; Govindaraju, C; Khan, NA; Nagappa, M; Ranjith, D; Sinha, S; Sonam, K; Taly, AB; Thangaraj, K, 2014)
" Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years."3.73Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (33.33)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bindu, PS1
Taly, AB1
Sonam, K1
Govindaraju, C1
Arvinda, HR1
Gayathri, N1
Bharath, MM1
Ranjith, D1
Nagappa, M1
Sinha, S1
Khan, NA1
Thangaraj, K1
Huner, G1
Baykal, T1
Demir, F1
Demirkol, M1
Morton, DH1

Other Studies

3 other studies available for glutaric acid and Maple Syrup Urine Disease

ArticleYear
Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.
    The British journal of radiology, 2014, Volume: 87, Issue:1034

    Topics: Child; Cohort Studies; Diagnosis, Differential; Early Diagnosis; Female; Giant Axonal Neuropathy; Gl

2014
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate

2005
Through my window--remarks at the 125th year celebration of Children's Hospital of Boston.
    Pediatrics, 1994, Volume: 94, Issue:6 Pt 1

    Topics: Adolescent; Boston; Child; Child, Preschool; Christianity; Fatty Acid Desaturases; Female; Glutarate

1994