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Citrulline transport defect

MedGen UID:
349092
•Concept ID:
C1859084
•
Disease or Syndrome
Synonym: CITRULLINE TRANSPORT DEFECT
 
Monarch Initiative: MONDO:0008989
OMIM®: 215720

Clinical features

From HPO
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D
Genes (Basel) 2020 Aug 29;11(9) doi: 10.3390/genes11091018. PMID: 32872442Free PMC Article
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
Wang LY, Chen NI, Chen PW, Chiang SC, Hwu WL, Lee NC, Chien YH
BMC Med Genet 2013 Feb 10;14:24. doi: 10.1186/1471-2350-14-24. PMID: 23394329Free PMC Article

Recent clinical studies

Etiology

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency.
Cao J, An D, Galduroz M, Zhuo J, Liang S, Eybye M, Frassetto A, Kuroda E, Funahashi A, Santana J, Mihai C, Benenato KE, Kumarasinghe ES, Sabnis S, Salerno T, Coughlan K, Miracco EJ, Levy B, Besin G, Schultz J, Lukacs C, Guey L, Finn P, Furukawa T, Giangrande PH, Saheki T, Martini PGV
Mol Ther 2019 Jul 3;27(7):1242-1251. Epub 2019 Apr 23 doi: 10.1016/j.ymthe.2019.04.017. PMID: 31056400Free PMC Article
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Summar ML, Mew NA
Pediatr Clin North Am 2018 Apr;65(2):231-246. Epub 2018 Feb 2 doi: 10.1016/j.pcl.2017.11.004. PMID: 29502911
Therapies for mitochondrial diseases and current clinical trials.
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article
Side effects of long-term glutamine supplementation.
Holecek M
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):607-16. Epub 2012 Sep 18 doi: 10.1177/0148607112460682. PMID: 22990615
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G, Sperandeo MP, Andria G
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):54-62. Epub 2011 Feb 9 doi: 10.1002/ajmg.c.30287. PMID: 21308987

Diagnosis

Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D
Genes (Basel) 2020 Aug 29;11(9) doi: 10.3390/genes11091018. PMID: 32872442Free PMC Article
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Summar ML, Mew NA
Pediatr Clin North Am 2018 Apr;65(2):231-246. Epub 2018 Feb 2 doi: 10.1016/j.pcl.2017.11.004. PMID: 29502911
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
A GC/MS-based metabolomic approach for diagnosing citrin deficiency.
Kuhara T, Ohse M, Inoue Y, Cooper AJ
Anal Bioanal Chem 2011 Jun;400(7):1881-94. Epub 2011 Mar 2 doi: 10.1007/s00216-011-4766-0. PMID: 21365350
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G, Sperandeo MP, Andria G
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):54-62. Epub 2011 Feb 9 doi: 10.1002/ajmg.c.30287. PMID: 21308987

Therapy

Imeglimin-mediated glycemic control in maternally inherited deafness and diabetes.
Ishibashi R, Hirayama K, Watanabe S, Okano K, Kuroda Y, Baba Y, Kanayama T, Ito C, Kasahara K, Aiba S, Iga R, Ohtani R, Inaba Y, Koshizaka M, Maezawa Y, Yokote K
J Diabetes Investig 2023 Dec;14(12):1419-1422. Epub 2023 Sep 15 doi: 10.1111/jdi.14085. PMID: 37715448Free PMC Article
Citrulline in health and disease. Review on human studies.
Papadia C, Osowska S, Cynober L, Forbes A
Clin Nutr 2018 Dec;37(6 Pt A):1823-1828. Epub 2017 Oct 16 doi: 10.1016/j.clnu.2017.10.009. PMID: 29107336
Therapies for mitochondrial diseases and current clinical trials.
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article
Ammonia metabolism and hyperammonemic disorders.
Walker V
Adv Clin Chem 2014;67:73-150. Epub 2014 Nov 4 doi: 10.1016/bs.acc.2014.09.002. PMID: 25735860
Side effects of long-term glutamine supplementation.
Holecek M
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):607-16. Epub 2012 Sep 18 doi: 10.1177/0148607112460682. PMID: 22990615

Prognosis

The mitochondrial biliverdin exporter ABCB10 in hepatocytes mitigates neutrophilic inflammation in alcoholic hepatitis.
Gutierrez V, Kim-Vasquez D, Shum M, Yang Q, Dikeman D, Louie SG, Shirihai OS, Tsukamoto H, Liesa M
Redox Biol 2024 Apr;70:103052. Epub 2024 Jan 24 doi: 10.1016/j.redox.2024.103052. PMID: 38290384Free PMC Article
Therapies for mitochondrial diseases and current clinical trials.
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
Ogier de Baulny H, Schiff M, Dionisi-Vici C
Mol Genet Metab 2012 May;106(1):12-7. Epub 2012 Feb 17 doi: 10.1016/j.ymgme.2012.02.010. PMID: 22402328
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.
Lee NC, Chien YH, Kobayashi K, Saheki T, Chen HL, Chiu PC, Ni YH, Chang MH, Hwu WL
J Inherit Metab Dis 2006 Aug;29(4):551-5. Epub 2006 May 30 doi: 10.1007/s10545-006-0250-y. PMID: 16736097

Clinical prediction guides

The mitochondrial biliverdin exporter ABCB10 in hepatocytes mitigates neutrophilic inflammation in alcoholic hepatitis.
Gutierrez V, Kim-Vasquez D, Shum M, Yang Q, Dikeman D, Louie SG, Shirihai OS, Tsukamoto H, Liesa M
Redox Biol 2024 Apr;70:103052. Epub 2024 Jan 24 doi: 10.1016/j.redox.2024.103052. PMID: 38290384Free PMC Article
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.
Radha Rama Devi A, Naushad SM
Gene 2018 Aug 20;668:190-195. Epub 2018 May 19 doi: 10.1016/j.gene.2018.05.076. PMID: 29787821
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J
J Korean Med Sci 2012 Aug;27(8):961-4. Epub 2012 Jul 25 doi: 10.3346/jkms.2012.27.8.961. PMID: 22876067Free PMC Article
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G, Sperandeo MP, Andria G
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):54-62. Epub 2011 Feb 9 doi: 10.1002/ajmg.c.30287. PMID: 21308987
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG
Mol Genet Metab 2003 Nov;80(3):302-6. doi: 10.1016/j.ymgme.2003.08.002. PMID: 14680976

Recent systematic reviews

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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