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Inborn disorder of pyrimidine metabolism

MedGen UID:: 541208
•Concept ID:: C0268127
•: Disease or Syndrome

Synonyms:	Disorder of pyrimidine metabolism; disorder of pyrimidine metabolism; inborn disorder of pyrimidine metabolism; inborn error of pyrimidine nucleobase metabolic process; inborn pyrimidine nucleobase metabolic process disorder; pyrimidine metabolic disorder; rare inborn error of pyrimidine nucleobase metabolic process
SNOMED CT:	Disorder of pyrimidine metabolism (85444005)

Monarch Initiative:	MONDO:0019238
Orphanet:	ORPHA79193

Definition

ANPM [from MONDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInborn disorder of pyrimidine metabolism

Inborn disorder of pyrimidine metabolism

Follow this link to review classifications for Inborn disorder of pyrimidine metabolism in Orphanet.

Professional guidelines

PubMed

Treatment of genetic defects of thiamine transport and metabolism.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B
Expert Rev Neurother 2016 Jul;16(7):755-63. Epub 2016 May 23 doi: 10.1080/14737175.2016.1187562. PMID: 27191787

Current relevance of pharmacogenetics in immunomodulation treatment for Crohn's disease.

Roberts RL, Barclay ML
J Gastroenterol Hepatol 2012 Oct;27(10):1546-54. doi: 10.1111/j.1440-1746.2012.07220.x. PMID: 22741564

Management of autoimmune hepatitis.

Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411

See all (25)

Recent clinical studies

Etiology

Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.

Jurecka A, Tylki-Szymanska A
Mol Genet Metab 2022 Jul;136(3):164-176. Epub 2022 Feb 19 doi: 10.1016/j.ymgme.2022.02.007. PMID: 35216884

Orthopaedic Manifestations of Inborn Errors of Metabolism.

Prasad N, Hamosh A, Sponseller P
JBJS Rev 2021 Jul 14;9(7) doi: 10.2106/JBJS.RVW.20.00245. PMID: 34257233

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176213. PMID: 32867370 Free PMC Article

Reducing risk in thiopurine therapy.

Marinaki AM, Arenas-Hernandez M
Xenobiotica 2020 Jan;50(1):101-109. Epub 2019 Nov 12 doi: 10.1080/00498254.2019.1688424. PMID: 31682552

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391 Free PMC Article

See all (104)

Diagnosis

Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.

Jurecka A, Tylki-Szymanska A
Mol Genet Metab 2022 Jul;136(3):164-176. Epub 2022 Feb 19 doi: 10.1016/j.ymgme.2022.02.007. PMID: 35216884

Disorders of purine biosynthesis metabolism.

Dewulf JP, Marie S, Nassogne MC
Mol Genet Metab 2022 Jul;136(3):190-198. Epub 2021 Dec 30 doi: 10.1016/j.ymgme.2021.12.016. PMID: 34998670

Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Anna A, Monika G
J Appl Genet 2018 Aug;59(3):253-268. Epub 2018 Apr 21 doi: 10.1007/s13353-018-0444-7. PMID: 29680930 Free PMC Article

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391 Free PMC Article

Reye syndrome.

De Vivo DC
Neurol Clin 1985 Feb;3(1):95-115. doi: 10.1016/S0733-8619(18)31058-2. PMID: 3887130 Free PMC Article

See all (244)

Therapy

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.

Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D
Immunity 2020 Sep 15;53(3):672-684.e11. Epub 2020 Aug 3 doi: 10.1016/j.immuni.2020.07.006. PMID: 32750333 Free PMC Article

Reducing risk in thiopurine therapy.

Marinaki AM, Arenas-Hernandez M
Xenobiotica 2020 Jan;50(1):101-109. Epub 2019 Nov 12 doi: 10.1080/00498254.2019.1688424. PMID: 31682552

Treatment of genetic defects of thiamine transport and metabolism.

Reye syndrome.

De Vivo DC
Neurol Clin 1985 Feb;3(1):95-115. doi: 10.1016/S0733-8619(18)31058-2. PMID: 3887130 Free PMC Article

See all (113)

Prognosis

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S
J Inherit Metab Dis 2023 Nov;46(6):1170-1185. Epub 2023 Sep 11 doi: 10.1002/jimd.12667. PMID: 37540500 Free PMC Article

Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Anna A, Monika G
J Appl Genet 2018 Aug;59(3):253-268. Epub 2018 Apr 21 doi: 10.1007/s13353-018-0444-7. PMID: 29680930 Free PMC Article

Update on thiopurine pharmacogenetics in inflammatory bowel disease.

Roberts RL, Barclay ML
Pharmacogenomics 2015 Jul;16(8):891-903. Epub 2015 Jun 12 doi: 10.2217/pgs.15.29. PMID: 26067482

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391 Free PMC Article

Nephrolithiasis related to inborn metabolic diseases.

Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A
Pediatr Nephrol 2010 Mar;25(3):415-24. Epub 2009 Jan 21 doi: 10.1007/s00467-008-1085-6. PMID: 19156444 Free PMC Article

See all (64)

Clinical prediction guides

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.

Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A
Orphanet J Rare Dis 2021 Mar 1;16(1):112. doi: 10.1186/s13023-021-01731-6. PMID: 33648541 Free PMC Article

Inborn errors of immunity associated with characteristic phenotypes.

Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837 Free PMC Article

Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Anna A, Monika G
J Appl Genet 2018 Aug;59(3):253-268. Epub 2018 Apr 21 doi: 10.1007/s13353-018-0444-7. PMID: 29680930 Free PMC Article

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391 Free PMC Article

Management of autoimmune hepatitis.

Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411

See all (78)

Recent systematic reviews

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.

Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880 Free PMC Article

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

van Karnebeek CD, Stockler S
Mol Genet Metab 2012 Mar;105(3):368-81. Epub 2011 Nov 30 doi: 10.1016/j.ymgme.2011.11.191. PMID: 22212131

See all (2)

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Inborn disorder of pyrimidine metabolism

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

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Clinical resources

Practice guidelines

Consumer resources

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