Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia

Akaboshi, Izumi; Endo, Fumio; Matsuda, Ichiro; Saheki, Takeyori

doi:10.1007/bf02391191

Cited by 13 publications

(4 citation statements)

References 10 publications

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“…This may be related to the general state of the patients, catabolic or not, which is also reflected in the levels of the other amino acids as will be mentioned later. Measurement of the rate of decrease in serum citrulline after the oral administration of citrulline has been used as a clinical test for citrullinemia [17,19]. But there are no reports as to whether the delay of serum citrulline decrease is found specifically in citrullinemia or not.…”

Section: Discussionmentioning

confidence: 99%

Serum Amino Acid Pattern of Type II Citrullinemic Patients and Effect of Oral Administration of Citrulline

Saheki

Kobayashi

Miura

et al. 1986

J. Clin. Biochem. Nutr.

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SummaryTwenty-four cases of type II citrullinemia, diagnosed as such based on enzymatic analysis showing a decreased enzyme content of kinetically-normal argininosuccinate synthetase in the liver, showed the following features of their serum amino acid patterns : 1) Serum arginine levels were higher than in controls and were significantly correlated with serum citrulline levels. 2) Serum alanine, serine, glycine, and branchedchain amino acids (valine + isoleucine + leucine) were significantly lower than in the controls, while threonine was rather higher and aromatic amino acids (tyrosine + phenylalanine) remained at the control level. Thus the ratio of threonine to serine and of branched-chain amino acids to aromatic amino acids were characteristically higher and lower than the control values, respectively.The above characteristics were quite unique to type II citrullinemia and not found in serum amino acid patterns of type I and III citrullinemic patients. Examination of effect of oral administration of citrulline

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Section: Discussionmentioning

confidence: 99%

Serum Amino Acid Pattern of Type II Citrullinemic Patients and Effect of Oral Administration of Citrulline

Saheki

Kobayashi

Miura

et al. 1986

J. Clin. Biochem. Nutr.

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“…Given the likely importance of dietary carbohydrates in citrin deficiency, we felt that it would be informative to assess the nutrient intake of citrindeficient subjects. Although the dietary preferences of CTLN2 patients have repeatedly been described in clinical reports (Akaboshi et al 1983;Hachisu et al 2005;Hagiwara et al 2003;Hwu et al 2001;Ikeda et al 2001;Ishikawa et al 2000;Ito et al 2000;Tsujii et al 1976) and a questionnaire survey of CTLN2 patients has been published , no direct nutritional assessment has been performed to date. Therefore, in the present study, we assessed the energy and nutrient intake of 18 citrin-deficient subjects carrying SLC25A13 mutations confirmed by DNA diagnoses, including NICCD patients as well as firstdegree relatives who were also found to carry the same SLC25A13 mutations (and therefore were citrindeficient) but were either asymptomatic or only mildly affected.…”

Section: Introductionmentioning

confidence: 99%

Reduced carbohydrate intake in citrin‐deficient subjects

Saheki

Kobayashi

Terashi

et al. 2008

J of Inher Metab Disea

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Citrin is the liver-type aspartate-glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). Clinically, CTLN2 is characterized by hyperammonaemia and citrullinaemia, whereas NICCD has a much more varied and transient presentation that can include multiple aminoacidaemias, hypoproteinaemia, galactosaemia, hypoglycaemia, and jaundice. Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In the present study, we monitored the food intake of 18 Japanese citrin-deficient subjects whose ages ranged from 1 to 33 years, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower centile distribution for carbohydrate intake relative to age- and sex-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms.

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“…49 Adult-onset and asymptomatic citrullinaemia have been reported in Caucasian and Japanese patients. [50][51][52][53][54][55][56][57] Liver transplantation has been a successful mode of treatment for adult-onset citrullinaemia. 58,59 A recent report on watermelon-induced citrullinaemia highlighted the importance of obtaining comprehensive history of food HHH: Hyperornithinaemia-hyperammonaemia-homocitrullinuria intake from patients presented for IMD diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Tan

Gajra

Lim

2006

Ann Acad Med Singap

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Introduction: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. Materials and Methods: Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett-Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography. Results: Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13. Conclusion: Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.

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Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia

Cited by 13 publications

References 10 publications

Serum Amino Acid Pattern of Type II Citrullinemic Patients and Effect of Oral Administration of Citrulline

Serum Amino Acid Pattern of Type II Citrullinemic Patients and Effect of Oral Administration of Citrulline

Reduced carbohydrate intake in citrin‐deficient subjects

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

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