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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]

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
Management of autoimmune hepatitis.
Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
Am J Hum Genet 1998 Oct;63(4):1049-59. doi: 10.1086/302054. PMID: 9758612Free PMC Article

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: 32867370Free 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: 25112391Free PMC Article

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: 29680930Free 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: 25112391Free PMC Article
Reye syndrome.
De Vivo DC
Neurol Clin 1985 Feb;3(1):95-115. doi: 10.1016/S0733-8619(18)31058-2. PMID: 3887130Free PMC Article

Therapy

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: 32867370Free PMC Article
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: 32750333Free 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.
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
Reye syndrome.
De Vivo DC
Neurol Clin 1985 Feb;3(1):95-115. doi: 10.1016/S0733-8619(18)31058-2. PMID: 3887130Free PMC Article

Prognosis

Disruption of CAD Oligomerization by Pathogenic Variants.
Del Caño-Ochoa F, Ramadane-Morchadi L, Eixerés L, Moreno-Morcillo M, Fernández-Leiro R, Ramón-Maiques S
J Mol Biol 2024 Dec 1;436(23):168832. Epub 2024 Oct 22 doi: 10.1016/j.jmb.2024.168832. PMID: 39447673
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: 37540500Free 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: 29680930Free PMC Article
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
Brain 2017 Feb;140(2):279-286. Epub 2016 Dec 21 doi: 10.1093/brain/aww300. PMID: 28007989
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: 25112391Free PMC Article

Clinical prediction guides

Disruption of CAD Oligomerization by Pathogenic Variants.
Del Caño-Ochoa F, Ramadane-Morchadi L, Eixerés L, Moreno-Morcillo M, Fernández-Leiro R, Ramón-Maiques S
J Mol Biol 2024 Dec 1;436(23):168832. Epub 2024 Oct 22 doi: 10.1016/j.jmb.2024.168832. PMID: 39447673
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: 33347837Free 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: 29680930Free 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: 25112391Free PMC Article
Management of autoimmune hepatitis.
Mayo MJ
Curr Opin Gastroenterol 2011 May;27(3):224-30. doi: 10.1097/MOG.0b013e3283457ce0. PMID: 21451411

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: 37842880Free 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

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