Liver Transplantation Versus Conservative Treatment for Adult-Onset Type II Citrullinemia: Our Experience and a Review of the Literature

Kimura, Norihisa; Kubo, Norihito; Narumi, Shunji; Toyoki, Yoshikazu; Ishido, Keinosuke; Kudo, Daisuke; Umehara, Minoru; Yakoshi, Yuta; Hakamada, Kenichi

doi:10.1016/j.transproceed.2013.06.016

Cited by 16 publications

(20 citation statements)

References 26 publications

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“…[7] This treatment can ideally be averted by using appropriate and strict dietary precautions. Arginine supplementation is an effective way of reducing blood ammonia levels as it helps to keep the urea cycle working.…”

Section: Discussionmentioning

confidence: 99%

Citrin deficiency: A treatable cause of acute psychosis in adults

et al. 2015

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Citrin deficiency is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. The disorder manifests either as neonatal intra-hepatic cholestasis or occurs in adulthood with recurrent hyperammonemia and neuropsychiatric disturbances. It has a high prevalence in the East Asian population, but is actually pan-ethnic. We report the case of a 26-year-old male patient presenting with episodes of abnormal neuro-psychiatric behavior associated with hyperammonemia, who was diagnosed to be having citrin deficiency. Sequencing of the SLC25A13 gene revealed two novel mutations, a single base pair deletion, c. 650delT (p.Phe217SerfsFNx0133) in exon 7, and a missense mutation, c. 869T>C (p.Ile290Thr) in exon 9. Confirmation of the diagnosis allowed establishment of the appropriate management. The latter is an essential pre-requisite for obtaining a good prognosis as well as for family counseling.

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Section: Discussionmentioning

confidence: 99%

Citrin deficiency: A treatable cause of acute psychosis in adults

et al. 2015

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“…Follow‐up periods have ranged from 6 months to nearly 7 years, with the survival rate being nearly 100%. There have been no reported cases of a heterozygous carrier later developing type II citrullinemia or disease recurrence in any of the recipients . Thus, LDLT can be performed safely with good outcomes in type II citrullinemia.…”

Section: Other Metabolic Diseasesmentioning

confidence: 99%

“…Even with pharmacologic therapies, life expectancy is decreased. LT offers complete cure in cases of medically refractory disease, with a 100% survival rate . Successful LT using livers from living related heterozygote carriers have been performed.…”

Section: Other Metabolic Diseasesmentioning

confidence: 99%

“…LT offers complete cure in cases of medically refractory disease, with a 100% survival rate. (100) Successful LT using livers from living related heterozygote carriers have been performed. In these cases, donor heterozygosity was established either through mode of inheritance or DNA analysis.…”

Section: Other Metabolic Diseasesmentioning

confidence: 99%

“…There have been no reported cases of a heterozygous carrier later developing type II citrullinemia or disease recurrence in any of the recipients. (56,(100)(101)(102)(103)(104)(105)(106)(107) Thus, LDLT can be performed safely with good outcomes in type II citrullinemia. Potential living related donors must be rigorously screened for the disease, even if asymptomatic.…”

Section: Other Metabolic Diseasesmentioning

confidence: 99%

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Genetic, hematological, and immunological disorders transmissible with liver transplantation

Tan¹,

Florman

Schiano

2017

Liver Transpl

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It is well recognized that solid organ transplantation can transmit bacterial infection and chronic viral hepatitis as well as certain cancers. As indications for liver transplantation (LT) have expanded, it has been used to treat and even cure certain genetic cholestatic disorders, urea cycle defects, and coagulation abnormalities; many of these conditions are potentially transmissible with LT as well. It is important for clinicians and transplant patients to be aware of these potentially transmissible conditions as unexplained post-LT complications can sometimes be related to donor transmission of disease and thus should prompt a thorough exploration of the donor allograft history. Herein, we will review the reported genetic, metabolic, hematologic, and immunological disorders that are transmissible with LT and describe clinical scenarios in which these cases have occurred, such as in inadvertent or recognized transplantation of a diseased organ, domino transplantation, and with living related liver donation. Liver Transplantation 23 663-678 2017 AASLD.

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Arai-Ichinoi

Kikuchi

Wada

et al. 2021

J of Inher Metab Disea

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Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency, some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency, and some adults are diagnosed after developing adult-onset type 2 citrullinemia (CTLN2) with hyperammonemia or encephalopathy. A diagnosis is needed before the development of severe phenotypic CTLN2 but is often difficult to obtain because newborn mass screening cannot detect all patients with citrin deficiency, and undiagnosed patients often appear healthy in childhood. There are only a few reports that have described patients in childhood. To explore the clinical features of undiagnosed patients with citrin deficiency in childhood, we studied 20 patients who were diagnosed after the first year of life. Of these patients, 45% experienced hypoglycemic attacks in childhood. The acetoacetic acid level during hypoglycemic attacks was lower than expected.Growth failure at diagnosis (45%) was also noted. From the patients' history, fat-and protein-rich food preferences (80%), a low birth weight (70%), and prolonged jaundice or infantile hepatopathy (40%) were identified. To diagnose citrin deficiency in childhood, we should ask about food preferences and a history of infantile hepatopathy for all children with severe hypoglycemia or growth failure and consider the genetic test for citrin deficiency if the patient has characteristic food preferences or a history of infantile hepatopathy. K E Y W O R D S citrullinemia, failure to thrive, SGA, SLC25A13 1 | INTRODUCTION Citrin deficiency is an autosomal-recessive inherited metabolic disorder caused by biallelic SLC25A13 (HGNC: 10983) mutations. 1 Citrin deficiency develops in several symptomatic and phenotypic phases: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, OMIM #605814), growth failure and dyslipidemia caused by citrin deficiency (FTTDCD), and adult-onset type 2 citrullinemia (CTLN2, OMIM #605814). 2-5 In the neonatal or infantile

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Liver Transplantation Versus Conservative Treatment for Adult-Onset Type II Citrullinemia: Our Experience and a Review of the Literature

Cited by 16 publications

References 26 publications

Citrin deficiency: A treatable cause of acute psychosis in adults

Citrin deficiency: A treatable cause of acute psychosis in adults

Genetic, hematological, and immunological disorders transmissible with liver transplantation

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

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