A successful trial of enzyme replacement therapy in a case of argininemia.

Sakiyama, Takeshi; Nakabayashi, Hiroki; Shimizu, Hisashi; Kondo, Wakio; Kodama, S.; Kitagawa, Teruo

doi:10.1620/tjem.142.239

Cited by 15 publications

(17 citation statements)

References 10 publications

(15 reference statements)

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Section: New Trends and Emerging Therapiesmentioning

confidence: 99%

“…Prior attempts have been based on the use of virus-encoded [261] or erythrocyte-contained arginase [262,263]. Frequent blood transfusions help to almost normalize plasma arginine [263] and might be useful for gaining time in order to start definitive therapy [262]. However, pegylated human recombinant arginase 1 (PEG-BCT-100) is now available and is being used in a clinical trial for cancer ( http://clinicaltrials.gov/ct2/show/NCT00988195), opening the way to potential testing of its efficacy in ARG1D.…”

Section: New Trends and Emerging Therapiesmentioning

confidence: 99%

See 1 more Smart Citation

Suggested guidelines for the diagnosis and management of urea cycle disorders

Häberle

Boddaert

Burlina

et al. 2012

Orphanet J Rare Dis

510

623

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Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading to death or to severe neurological handicap in many survivors. Despite the existence of effective therapy with alternative pathway therapy and liver transplantation, outcomes remain poor. This may be related to underrecognition and delayed diagnosis due to the nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity. These guidelines aim at providing a trans-European consensus to: guide practitioners, set standards of care and help awareness campaigns. To achieve these goals, the guidelines were developed using a Delphi methodology, by having professionals on UCDs across seven European countries to gather all the existing evidence, score it according to the SIGN evidence level system and draw a series of statements supported by an associated level of evidence. The guidelines were revised by external specialist consultants, unrelated authorities in the field of UCDs and practicing pediatricians in training. Although the evidence degree did hardly ever exceed level C (evidence from non-analytical studies like case reports and series), it was sufficient to guide practice on both acute and chronic presentations, address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Also, it identified knowledge voids that must be filled by future research. We believe these guidelines will help to: harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.

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Section: New Trends and Emerging Therapiesmentioning

confidence: 99%

Section: New Trends and Emerging Therapiesmentioning

confidence: 99%

Suggested guidelines for the diagnosis and management of urea cycle disorders

Häberle

Boddaert

Burlina

et al. 2012

Orphanet J Rare Dis

510

623

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“…Transfusion of whole blood or erythrocytes has been shown to improve plasma levels of l-arginine and ammonia for a period of up to about 3 months and also to a clinical improvement (Mizutani et al 1987a;Jain-Ghai et al 2011;Sakiyama et al 1984), even though the first report of a trial of enzyme replacement therapy using erythrocyte transfusions showed discouraging results with no significant decrease of blood arginine or clinical improvement (Michels and Beaudet 1978). The positive effect is probably due to the presumed activity of arginase 1 in transfused red blood cells which is well studied in the context of posttransfusional immunosuppression (Bernard et al 2007).…”

Section: Treatment and Outcomementioning

confidence: 99%

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

et al. 2015

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Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle. In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal cholestasis, acute liver failure, or liver fibrosis. Some patients have developed hepatocellular carcinoma. A usually mild or moderate hyperammonemia may occur at any age. The pathogenesis of arginase I deficiency is yet not fully understood. However, the accumulation of L-arginine and the resulting abnormalities in the metabolism of guanidine compounds and nitric oxide have been proposed to play a major pathophysiological role. This article provides an update on the first patients ever described, gives an overview of the distinct clinical characteristics, biochemical as well as genetical background and discusses treatment options.

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“…Recently, Sakiyama et al (1984) reported that blood exchange transfusion and erythrocyte transfusion to a patient with hyperagininemia were effective for biochemical and clinical findings. We confirmed the effect of blood exchange transfusion and erythrocyte transfusion not only in vivo but also in vitro.…”

Section: Discussionmentioning

confidence: 99%

Enzyme replacement therapy in a patient with hyperargininemia.

Mizutani

Hayakawa

Maehara

et al. 1987

Tohoku J. Exp. Med.

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In a patient with hyperargininemia, enzyme replacement therapy such as whole blood exchange transfusion or erythrocyte transfusion was performed, and its effect was confirmed in vitro as well as in vivo. The patient has been treated with the restriction of protein intake, oral administration of an essential amino acid mixture, and sodium benzoate or phenylacetic acid. With these treatments, his plasma ammonia levels were controlled.On the other hand, plasma and CSF concentrations of arginine were not so well controlled. With whole blood exchange transfusion and erythrocyte transfusion, plasma arginine concentrations and plasma ammonia levels were controlled.These effects have continued for about 3 months. Furthermore, the effect of exchanged erythrocytes on the blood arginine levels was also confirmed by in vitro experimentation that mixes arginine with erythrocytes in the medium RPMI 1640. Arginine concentration of the medium did not decrease when arginine was mixed with erythrocytes of the patient, but when arginine was mixed with erythrocytes of mother or normal controls, it decreased rapidly.In calculation, 10' of erythrocytes of the mother or normal controls was presumed to metabolize 4-5 nmole of arginine per day. From these results, the erythrocyte exchange transfusion is considered to be effective for the control of clinical and biochemical abnormalities in this disorder.blood exchange transfusion ; enzyme replacement therapy ; erythrocyte transfusion ; hyperargininemia

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A successful trial of enzyme replacement therapy in a case of argininemia.

Cited by 15 publications

References 10 publications

Suggested guidelines for the diagnosis and management of urea cycle disorders

Suggested guidelines for the diagnosis and management of urea cycle disorders

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

Enzyme replacement therapy in a patient with hyperargininemia.

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