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Citrullinemia, mild

MedGen UID:
865271
•Concept ID:
C4016834
•
Finding
Synonym: CITRULLINEMIA, MILD
 
OMIM®: 603470

Professional guidelines

PubMed

The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C
Mol Genet Metab 2022 Apr;135(4):327-332. Epub 2022 Feb 20 doi: 10.1016/j.ymgme.2022.02.008. PMID: 35279366
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ
J Inherit Metab Dis 2010 Oct;33(Suppl 2):S295-305. Epub 2010 Jun 22 doi: 10.1007/s10545-010-9129-z. PMID: 20567911
Neonatal screening for citrullinaemia.
Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, Trefz FK, Koch HG, Häberle J, Korall H, Marquardt I, Korenke C
Eur J Pediatr 2003 Jun;162(6):417-20. Epub 2003 Apr 8 doi: 10.1007/s00431-003-1177-z. PMID: 12684898

Recent clinical studies

Etiology

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Asymptomatic ASS1 carriers with high blood citrulline levels.
Chen HA, Hsu RH, Chang KL, Huang YC, Chiang YC, Lee NC, Hwu WL, Chiu PC, Chien YH
Mol Genet Genomic Med 2022 Sep;10(9):e2007. Epub 2022 Jun 21 doi: 10.1002/mgg3.2007. PMID: 35726796Free PMC Article
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Kose E, Unal O, Bulbul S, Gunduz M, Häberle J, Arslan N
Clin Biochem 2017 Aug;50(12):686-689. Epub 2017 Jan 27 doi: 10.1016/j.clinbiochem.2017.01.011. PMID: 28132756
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C
J Paediatr Child Health 2011 May;47(5):262-5. Epub 2011 Jan 18 doi: 10.1111/j.1440-1754.2010.01948.x. PMID: 21244552

Diagnosis

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Asymptomatic ASS1 carriers with high blood citrulline levels.
Chen HA, Hsu RH, Chang KL, Huang YC, Chiang YC, Lee NC, Hwu WL, Chiu PC, Chien YH
Mol Genet Genomic Med 2022 Sep;10(9):e2007. Epub 2022 Jun 21 doi: 10.1002/mgg3.2007. PMID: 35726796Free PMC Article
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C
Mol Genet Metab 2022 Apr;135(4):327-332. Epub 2022 Feb 20 doi: 10.1016/j.ymgme.2022.02.008. PMID: 35279366
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C, Rüfenacht V, Häberle J
Hum Mutat 2017 May;38(5):471-484. Epub 2017 Feb 15 doi: 10.1002/humu.23184. PMID: 28111830

Therapy

Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia.
Saini AG, Attri S, Sankhyan N, Singhi P
BMJ Case Rep 2018 Apr 25;2018 doi: 10.1136/bcr-2017-220193. PMID: 29695388Free PMC Article
30-year follow-up of a patient with classic citrullinemia.
Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ
Mol Genet Metab 2012 Jun;106(2):248-50. Epub 2012 Mar 23 doi: 10.1016/j.ymgme.2012.03.011. PMID: 22494546

Prognosis

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y, Gao H, Lu B, Zhou S, Zheng T, Lin W, Zhu L, Jiang M, Fu Q
BMC Med Genet 2019 Jun 17;20(1):110. doi: 10.1186/s12881-019-0836-5. PMID: 31208364Free PMC Article
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C
J Paediatr Child Health 2011 May;47(5):262-5. Epub 2011 Jan 18 doi: 10.1111/j.1440-1754.2010.01948.x. PMID: 21244552

Clinical prediction guides

Features of liver injury in 138 Chinese patients with NICCD.
Jiang M, Peng M, Lu Z, Shao Y, Liu Z, Li X, Lin Y, Liu L, Zhang W, Cai Y
J Pediatr Endocrinol Metab 2023 Dec 15;36(12):1154-1160. Epub 2023 Nov 10 doi: 10.1515/jpem-2023-0026. PMID: 37939726
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C
Mol Genet Metab 2022 Apr;135(4):327-332. Epub 2022 Feb 20 doi: 10.1016/j.ymgme.2022.02.008. PMID: 35279366
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y, Gao H, Lu B, Zhou S, Zheng T, Lin W, Zhu L, Jiang M, Fu Q
BMC Med Genet 2019 Jun 17;20(1):110. doi: 10.1186/s12881-019-0836-5. PMID: 31208364Free PMC Article

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