 Hyperglycinemia, Nonketotic
"Hyperglycinemia, Nonketotic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
| Descriptor ID |
D020158
|
| MeSH Number(s) |
C10.228.140.163.100.375 C16.320.565.100.477 C16.320.565.189.375 C18.452.132.100.375 C18.452.648.100.477 C18.452.648.189.375
|
| Concept/Terms |
Hyperglycinemia, Nonketotic- Hyperglycinemia, Nonketotic
- Hyperglycinemias, Nonketotic
- Nonketotic Hyperglycinemias
- Nonketotic Hyperglycinemia
- Glycine Encephalopathy
- Encephalopathies, Glycine
- Encephalopathy, Glycine
- Glycine Encephalopathies
- Non-ketotic Hyperglycinemia
- Hyperglycinemia, Non-ketotic
- Hyperglycinemias, Non-ketotic
- Non ketotic Hyperglycinemia
- Non-ketotic Hyperglycinemias
|
Below are MeSH descriptors whose meaning is more general than "Hyperglycinemia, Nonketotic".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Hyperglycinemia, Nonketotic [C16.320.565.100.477]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hyperglycinemia, Nonketotic [C16.320.565.189.375]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hyperglycinemia, Nonketotic [C18.452.132.100.375]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Hyperglycinemia, Nonketotic [C18.452.648.100.477]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hyperglycinemia, Nonketotic [C18.452.648.189.375]
Below are MeSH descriptors whose meaning is more specific than "Hyperglycinemia, Nonketotic".
This graph shows the total number of publications written about "Hyperglycinemia, Nonketotic" by people in this website by year, and whether "Hyperglycinemia, Nonketotic" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 2 | 0 | 2 | | 2017 | 4 | 0 | 4 | | 2019 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hyperglycinemia, Nonketotic" by people in Profiles.
-
Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR, Hennermann JB, Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. J Inherit Metab Dis. 2019 05; 42(3):438-450.
-
Coughlin CR, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2018 02; 79:e1.
-
Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab. 2017 06; 121(2):80-82.
-
Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Hum Mutat. 2017 06; 38(6):678-691.
-
Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatr Neurol. 2017 Jun; 71:65-69.
-
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017 01; 19(1):104-111.
-
Bjoraker KJ, Swanson MA, Coughlin CR, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr. 2016 Mar; 170:234-9.
-
Swanson MA, Coughlin CR, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct; 78(4):606-18.
-
Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb; 137(Pt 2):366-79.
-
Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar; 35(2):253-61.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|