A patient with adult-onset type II citrullinemia on long-term hemodialysis: Reversal of clinical symptoms and brain MRI findings

Oshiro, Saori; Kochinda, Tutomu; Tana, Takeshi; Yamazato, Masanobu; Kobayashi, Kazuo; Komine, Yukihiro; Muratani, Hiromi; Saheki, Takeyori; Iseki, Kunitoshi; Takishita, Shuichi

doi:10.1053/ajkd.2002.29915

Cited by 13 publications

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“…Two of our CTLN2 patients who were treated with glycerol died of rapidly progressive brain edema (patients 1 and 2), while the remaining patient was rescued with only administration of mannitol (patient 3). Glycerol and/or mannitol were used previously for treatment of brain edema in many patients with CTLN2 (Table 2) (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Among these cases, eight patients were treated with glycerol, two with both glycerol and mannitol, and one with only mannitol (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19).…”

Section: Discussionmentioning

confidence: 99%

“…Glycerol and/or mannitol were used previously for treatment of brain edema in many patients with CTLN2 (Table 2) (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Among these cases, eight patients were treated with glycerol, two with both glycerol and mannitol, and one with only mannitol (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Of those with administration of glycerol, all died of severe brain edema with extensive necrosis of brain soon after treatment, with the exception of a 40-year-old female patient reported by Oshiro et al Glycerol and D-mannitol have been widely used as osmotic agents for the treatment of brain edema to reduce the intracranial pressure by reducing the brain water content and/or increasing cerebrospinal fluid absorption (26).…”

Section: Discussionmentioning

confidence: 99%

“…Before application of liver transplantation as a curative treatment (5)(6)(7)(8), most patients died within a few years after onset. Severe brain edema due to encephalopathy is a direct cause of death in patients with CTLN2, and there have been only a few reports of successful recovery of patients from serious encephalopathy with brain edema by medication (9,10). In general, glycerol and/or mannitol have been administered intravenously as osmotic agents for the management of brain edema.…”

Section: Introductionmentioning

confidence: 99%

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Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

et al. 2005

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Objective We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment of brain edema in patients with adult-onset type II citrullinemia (CTLN2) caused by citrin deficiency.Patients and Methods We performed a retrospective investigation of 3 patients with CTLN2 treated for brain edema at our institute: a 31-year-old male patient and a 40-year-old female patient received treatment for encephalopathy-related brain edema with 10% glycerol infusion and 20% D-mannitol, and a 40-year-old male patient received only 20% D-mannitol infusion. In addition, we also performed a retrospective study in 11 CTLN2 patients reported previously (8 patients treated with 10% glycerol, 2 treated with 10% glycerol and 20% mannitol, and 1 treated with 20% mannitol).Results The 12 patients treated with 10% glycerol, including 2 of our patients, died due to rapidly deteriorating encephalopathy and brain edema. On the other hand, the 2 patients who received only 20% D-mannitol, including one of our patients, recovered with the disappearance of brain edema.Conclusion In CTLN2 patients, glycerol infusion seems to be associated with exacerbation of encephalopathy itself and only mannitol should be used for the treatment of brain edema in patients with this disorder. (Internal Medicine 44: 188-195, 2005)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

et al. 2005

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“…As we recently found that children show strong food preferences starting around 1-2 years of age after NICCD symptoms have disappeared, we use this as a diagnostic marker of citrin deficiency. The clinical data from CTLN2 or NICCD patients used for identifying novel SLC25A13 mutations have been described (Oshiro et al 2002;Waki et al 2004;Ikeda et al 2004;Yazaki et al 2005) and will be reported elsewhere. Samples such as liver specimens and/or cultured fibroblast cells were obtained with the approval of the Institutional Ethics Review Board in each country or area.…”

Section: Subjectsmentioning

confidence: 99%

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

et al. 2008

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Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). So far, we have described 19 SLC25A13 mutations. Here, we report 13 novel SLC25A13 mutations (one insertion, two deletion, three splice site, two nonsense, and five missense)

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“…These phenomena are useful for diagnosis of CTLN2 Tsuboi et al 2001;Ikeda et al 2001;Maruyama et al 2001;Oshiro et al 2002) and to determine the prognosis of the patients (Yagi et al 1988), and may be related to the finding that about 10% of the patients with CTLN2 suffer from hepatoma without liver cirrhosis at relatively young ages (Tsujii et al 1976;Kobayashi et al 2000).…”

Section: Questions To Be Answeredmentioning

confidence: 99%

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

2002

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Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) Abstract By using homozygosity mapping and positional cloning, we have shown that adult-onset type II citrullinemia (CTLN2) is caused by mutations of the SLC25A13 gene, which is localized on chromosome 7q21.3 and encodes a mitochondrial solute carrier protein named citrin. So far, we have reported nine mutations, most of which cause loss of citrin, and we have established several methods for DNA diagnosis. These methods have shown that more than 90% of the patients diagnosed as suffering from CTLN2 by enzymatic analysis carry SLC25A13 mutations in both alleles, indicating that CTLN2 is caused by citrin deficiency. Furthermore, by using the same DNA diagnosis methods, we discovered that 70 neonates or infants suffering from a particular type of neonatal hepatitis carry the same SLC25A13 mutations. Since the symptoms of the neonates are different from those of the more severe CTLN2 and usually ameliorate without special treatment, we designated the neonatal disease neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). We conclude that citrin deficiency causes NICCD in neonates and CTLN2 in adults through the additional effects of genetic or environmental modifiers. Since the function of citrin, together with that of an isoform, aralar, was found to be as a mitochondrial aspartate glutamate carrier, the various symptoms of NICCD and CTLN2 may be understood as caused by defective aspartate export from the mitochondria to the cytosol and defects in the malate aspartate shuttle. It is, however, still difficult to understand the cause of the hepatic deficiency of argininosuccinate synthetase protein in CTLN2.Received

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A patient with adult-onset type II citrullinemia on long-term hemodialysis: Reversal of clinical symptoms and brain MRI findings

Cited by 13 publications

References 5 publications

Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

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