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Adult-onset citrullinemia type I

MedGen UID:
831252
•Concept ID:
CN201794
•
Disease or Syndrome
Synonyms: Adult-onset citrullinemia type 1; adult-onset citrullinemia type 1; adult-onset citrullinemia type I; Late-onset citrullinemia type 1; late-onset citrullinemia type 1; Late-onset citrullinemia type I; late-onset citrullinemia type I
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016601
Orphanet: ORPHA247573

Definition

A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult-onset citrullinemia type I
Follow this link to review classifications for Adult-onset citrullinemia type I in Orphanet.

Professional guidelines

PubMed

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
Chen HA, Hsu RH, Chen YH, Hsu LW, Chiang SC, Lee NC, Hwu WL, Chiu PC, Chien YH
Mol Genet Metab 2022 Aug;136(4):330-336. Epub 2022 Jun 29 doi: 10.1016/j.ymgme.2022.06.007. PMID: 35798653
Metabolic basis and treatment of citrin deficiency.
Hayasaka K
J Inherit Metab Dis 2021 Jan;44(1):110-117. Epub 2020 Aug 26 doi: 10.1002/jimd.12294. PMID: 32740958
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Okano Y, Ohura T, Sakamoto O, Inui A
Mol Genet Metab 2019 Jul;127(3):175-183. Epub 2019 Jun 15 doi: 10.1016/j.ymgme.2019.06.004. PMID: 31255436

Recent clinical studies

Etiology

Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M
Nutrients 2023 May 12;15(10) doi: 10.3390/nu15102284. PMID: 37242166Free PMC Article
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K
J Inherit Metab Dis 2022 May;45(3):431-444. Epub 2022 Feb 25 doi: 10.1002/jimd.12483. PMID: 35142380
Food Preferences of Patients with Citrin Deficiency.
Okamoto M, Okano Y, Okano M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y
Nutrients 2021 Sep 6;13(9) doi: 10.3390/nu13093123. PMID: 34579000Free PMC Article
Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency.
Hirayama S, Nagasaka H, Honda A, Komatsu H, Kodama T, Inui A, Morioka I, Kaji S, Ueno T, Ihara K, Yagi M, Kizaki Z, Bessho K, Kondou H, Yorifuji T, Tsukahara H, Iijima K, Miida T
J Clin Endocrinol Metab 2018 Jul 1;103(7):2488-2497. doi: 10.1210/jc.2017-02664. PMID: 29659898
Biochemical and molecular characteristics of citrin deficiency in Korean children.
Oh SH, Lee BH, Kim GH, Choi JH, Kim KM, Yoo HW
J Hum Genet 2017 Feb;62(2):305-307. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.131. PMID: 27829683

Diagnosis

Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M
Nutrients 2023 May 12;15(10) doi: 10.3390/nu15102284. PMID: 37242166Free PMC Article
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K
J Inherit Metab Dis 2022 May;45(3):431-444. Epub 2022 Feb 25 doi: 10.1002/jimd.12483. PMID: 35142380
Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.
Kakiuchi T, Nakayama A, Akiyama T, Martsuo M
Clin J Gastroenterol 2020 Feb;13(1):97-101. Epub 2019 Jun 29 doi: 10.1007/s12328-019-01011-8. PMID: 31256334
Growth impairment in individuals with citrin deficiency.
Numakura C, Tamiya G, Ueki M, Okada T, Maisawa SI, Kojima-Ishii K, Murakami J, Horikawa R, Tokuhara D, Ito K, Adachi M, Abiko T, Mitsui T, Hayasaka K
J Inherit Metab Dis 2019 May;42(3):501-508. Epub 2019 Feb 4 doi: 10.1002/jimd.12051. PMID: 30715743
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature.
Kimura N, Kubo N, Narumi S, Toyoki Y, Ishido K, Kudo D, Umehara M, Yakoshi Y, Hakamada K
Transplant Proc 2013 Nov;45(9):3432-7. doi: 10.1016/j.transproceed.2013.06.016. PMID: 24182831

Therapy

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.
Okano Y, Okamoto M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y
Mol Genet Metab 2021 May;133(1):63-70. Epub 2021 Mar 10 doi: 10.1016/j.ymgme.2021.03.004. PMID: 33741270
Metabolic basis and treatment of citrin deficiency.
Hayasaka K
J Inherit Metab Dis 2021 Jan;44(1):110-117. Epub 2020 Aug 26 doi: 10.1002/jimd.12294. PMID: 32740958
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Okano Y, Ohura T, Sakamoto O, Inui A
Mol Genet Metab 2019 Jul;127(3):175-183. Epub 2019 Jun 15 doi: 10.1016/j.ymgme.2019.06.004. PMID: 31255436
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
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Hayasaka K, Numakura C, Yamakawa M, Mitsui T, Watanabe H, Haga H, Yazaki M, Ohira H, Ochiai Y, Tahara T, Nakahara T, Yamashiki N, Nakayama T, Kon T, Mitsubuchi H, Yoshida H
J Inherit Metab Dis 2018 Sep;41(5):777-784. Epub 2018 Apr 12 doi: 10.1007/s10545-018-0176-1. PMID: 29651749

Prognosis

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
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K
J Inherit Metab Dis 2022 May;45(3):431-444. Epub 2022 Feb 25 doi: 10.1002/jimd.12483. PMID: 35142380
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.
Hayasaka K, Numakura C, Yamakawa M, Mitsui T, Watanabe H, Haga H, Yazaki M, Ohira H, Ochiai Y, Tahara T, Nakahara T, Yamashiki N, Nakayama T, Kon T, Mitsubuchi H, Yoshida H
J Inherit Metab Dis 2018 Sep;41(5):777-784. Epub 2018 Apr 12 doi: 10.1007/s10545-018-0176-1. PMID: 29651749
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients.
Wong YC, Au WL, Xu M, Ye J, Lim CC
Arch Neurol 2007 Jul;64(7):1034-7. doi: 10.1001/archneur.64.7.1034. PMID: 17620496
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.
Takahashi H, Kagawa T, Kobayashi K, Hirabayashi H, Yui M, Begum L, Mine T, Takagi S, Saheki T, Shinohara Y
Med Sci Monit 2006 Feb;12(2):CS13-5. Epub 2006 Jan 26 PMID: 16449956

Clinical prediction guides

Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency.
Yau WW, Chen GB, Zhou J, Francisco JC, Thimmukonda NK, Li S, Singh BK, Yen PM
Hum Mol Genet 2023 May 18;32(11):1922-1931. doi: 10.1093/hmg/ddad018. PMID: 36881658Free PMC Article
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
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Pinto A, Ashmore C, Batzios S, Daly A, Dawson C, Dixon M, Evans S, Green D, Gribben J, Hunjan I, Jameson E, Newby C, Pierre G, Rajwal S, Robertson L, Santra S, Sharrard M, Vara R, White L, Wilcox G, Yilmaz O, MacDonald A
Nutrients 2020 Oct 29;12(11) doi: 10.3390/nu12113313. PMID: 33137944Free PMC Article
Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.
Kakiuchi T, Nakayama A, Akiyama T, Martsuo M
Clin J Gastroenterol 2020 Feb;13(1):97-101. Epub 2019 Jun 29 doi: 10.1007/s12328-019-01011-8. PMID: 31256334
Anesthetic experience of an adult male with citrullinemia type II: a case report.
Choi JJ, Kim HS, Lee KC, Shin Y, Jo YY
BMC Anesthesiol 2016 Oct 11;16(1):92. doi: 10.1186/s12871-016-0253-7. PMID: 27724842Free PMC Article

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