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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

Pathogenesis and Management of Citrin Deficiency.
Hayasaka K
Intern Med 2024 Jul 15;63(14):1977-1986. Epub 2023 Nov 13 doi: 10.2169/internalmedicine.2595-23. PMID: 37952953Free PMC Article
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
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

Recent clinical studies

Etiology

The therapeutic landscape of citrin deficiency.
Vuković T, Kuek LE, Yu B, Makris G, Häberle J
J Inherit Metab Dis 2024 Nov;47(6):1157-1174. Epub 2024 Jul 17 doi: 10.1002/jimd.12768. PMID: 39021261Free PMC Article
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
The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.
Suzuki H, Kawamura Y, Kinowaki K, Akuta N, Kasuya K, Fujiyama S, Sezaki H, Hosaka T, Saitoh S, Kobayashi M, Kobayashi M, Arase Y, Ikeda K, Suzuki F, Suzuki Y, Kumada H
Intern Med 2019 Jul 1;58(13):1891-1895. Epub 2019 Feb 25 doi: 10.2169/internalmedicine.2374-18. PMID: 30799367Free PMC Article

Diagnosis

Pathogenesis and Management of Citrin Deficiency.
Hayasaka K
Intern Med 2024 Jul 15;63(14):1977-1986. Epub 2023 Nov 13 doi: 10.2169/internalmedicine.2595-23. PMID: 37952953Free PMC Article
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
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
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
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).
Saheki T, Kobayashi K
J Hum Genet 2002;47(7):333-41. doi: 10.1007/s100380200046. PMID: 12111366

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
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
Reduced carbohydrate intake in citrin-deficient subjects.
Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A
J Inherit Metab Dis 2008 Jun;31(3):386-94. Epub 2008 Apr 14 doi: 10.1007/s10545-008-0752-x. PMID: 18415701

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
An autopsy case with adult onset type II citrullinemia showing myelopathy.
Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S
J Neurol Sci 2007 Feb 15;253(1-2):77-80. Epub 2007 Jan 2 doi: 10.1016/j.jns.2006.11.014. PMID: 17196992

Clinical prediction guides

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
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
Reduced carbohydrate intake in citrin-deficient subjects.
Saheki T, Kobayashi K, Terashi M, Ohura T, Yanagawa Y, Okano Y, Hattori T, Fujimoto H, Mutoh K, Kizaki Z, Inui A
J Inherit Metab Dis 2008 Jun;31(3):386-94. Epub 2008 Apr 14 doi: 10.1007/s10545-008-0752-x. PMID: 18415701
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

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