 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
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| 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
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| 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
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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 | | 2022 | 2 | 0 | 2 | | 2023 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Hyperglycinemia, Nonketotic" by people in Profiles.
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Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, ?stergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, P?rez B, Ugarte M, Gr?newald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. Hum Mol Genet. 2023 03 06; 32(6):917-933.
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Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022 12 05; 17(1):423.
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Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 2022 07; 45(4):734-747.
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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.
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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.
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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.
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Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garc?a-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, P?rez B, P?rez-Cerd? C, Rodr?guez-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.
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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.
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Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodr?guez-Pombo P, V?is?nen ML, Spector E, Creadon-Swindell G, Br?s-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, P?rez-Cerd? 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.
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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.
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