Hyperarginin�mie mit Arginasedefekt Eine neue famili�re Stoffwechselst�rung

Terheggen, H. G.; Schwenk, A.; Löwenthal, A.; Sande, M. Van; Colombo, J. P.

doi:10.1007/bf00438893

Cited by 26 publications

(6 citation statements)

References 7 publications

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“…This causes an overflow of urea cycle metabolites into other pathways such as pyrimidine biosynthesis (Naylor et al 1977) as we could also show at the initial presentation of our patient by elevated urinary excretion of uracil and orotic acid as parameters of pyrimidine synthesis. Diminished tubular reabsorption of dibasic amino acids as a mechanism of arginine excretion was observed in our patient and has previously been described in other patients with hyperargininaemia (Terheggen et al 1970b). The basis of this finding is competitive inhibition of the dibasic transporter by arginine (van Sande et al 1971).…”

Section: Discussionsupporting

confidence: 56%

“…Additionally, compared with CSF concentrations of essential neutral and basic amino acids from other patients CSF, concentrations of our patient with exception of ornithine were in the same range ( Fig. 2; Cederbaum et al 1979;Terheggen et al 1970b).…”

Section: Discussionsupporting

confidence: 54%

“…In this disorder, arginine levels in blood can increase up to 18-fold as demonstrated in our patient and others (Scaglia and Lee 2006;Terheggen et al 1970b). This causes an overflow of urea cycle metabolites into other pathways such as pyrimidine biosynthesis (Naylor et al 1977) as we could also show at the initial presentation of our patient by elevated urinary excretion of uracil and orotic acid as parameters of pyrimidine synthesis.…”

Section: Discussionmentioning

confidence: 45%

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Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

Scholl‐Bürgi

Sigl

Häberle

et al. 2008

J of Inher Metab Disea

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Section: Discussionsupporting

confidence: 56%

Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 45%

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Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

Scholl‐Bürgi

Sigl

Häberle

et al. 2008

J of Inher Metab Disea

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“…The first ARG1‐D patients described in the literature were three female siblings, the older two of whom developed seizures, psychomotor delays, and spasticity within the first years of life. 55 , 56 , 57 At presentation and biochemical evaluation for the two older sisters (ages 5 years and 1.5 years), significantly diminished/near‐undetectable arginase one enzymatic activity and markedly increased arginine levels in serum and CSF were evident; only mild hyperammonemia was observed. Because of this family history, a third sister was assessed at birth and was found to also have ARG1‐D.…”

Section: Introductionmentioning

confidence: 99%

The role and control of arginine levels in arginase 1 deficiency

Diaz

Bechter²,

Cederbaum

2022

J of Inher Metab Disea

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Arginase 1 Deficiency (ARG1-D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading to mobility impairment. Unlike the typical presentation of other urea cycle disorders, individuals with ARG1-D usually appear healthy at birth and hyperammonemia is comparatively less severe and less common. Clinical manifestations typically begin to develop in early childhood in association with high plasma arginine levels, with hyperargininemia (and not hyperammonemia) considered to be the primary driver of disease sequelae. Nearly five decades of clinical experience with ARG1-D and empirical studies in genetically manipulated models have generated a large body of evidence that, when considered in aggregate, implicates arginine directly in disease pathophysiology. Severe dietary protein restriction to minimize arginine intake and diversion of ammonia from the urea cycle are the mainstay of care. Although this approach does reduce plasma arginine and improve patients' cognitive and motor/mobility manifestations, it is inadequate to achieve and maintain sufficiently low arginine levels and prevent progression in the long term. This review presents a comprehensive discussion of the clinical and scientific literature, the effects and limitations of the current standard of care, and the authors' perspectives regarding the past, current, and future management of ARG1-D.arginase deficiency, guanidino compounds, hyperargininemia, inborn error of metabolism, urea cycle disorder Synopsis ARG1-D is a distinct urea cycle disorder with a progressive neurologic phenotype. This review presents a comprehensive discussion of evidence from genetically manipulated mouse models and observations from clinical practice that implicate high arginine levels directly in disease pathophysiology.

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“…in leukocytes, which are easy to separate. We have also determine'd free amino acid conHyperargininemia was characterised by the determination centrations and arginase activity in erythrocytes, in order of amino acid concentrations in biological fluids, and to acquire a view of the free amino acid distribution in enzyme activities in erythrqcytes (1,2). But for a better the three blood compartments.…”

Section: Introductionmentioning

confidence: 99%

Arginase and Free Amino Acids in Hyperargininemia: Leukocyte Arginine as a Diagnostic Parameter for Heterozygotes

Marescau¹,

Pintens²,

Löwenthal³

et al. 1979

Clinical Chemistry and Laboratory Medicine

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Summary: Arginase activity and free amino acids were measured in plasma, erythrocytes and leukocytes of patients with hyperargininemia and in controls. There is no arginase activity in the leukocytes and erythrocytes of homozygous patients; in heterozygotes it is normal to low. The activity is 50 to 100 times higher in leukocytes than in erythrocytes. In controls as well as in patients and heterozygotes, the amino acid concentrations are higher in leukocytes than in plasma and erythrocytes. In addition to the increased arginine in the three blood compartments (the result of an arginase deficiency), there is also an obvious decrease of aspartic acid in the erythrocytes of the patients. The arginine concentration in leukocytes of heterozygotes is as high as in homozygotes and can therefore be used as a diagnostic parameter for heterozygotes.

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Hyperarginin�mie mit Arginasedefekt Eine neue famili�re Stoffwechselst�rung

Cited by 26 publications

References 7 publications

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

The role and control of arginine levels in arginase 1 deficiency

Arginase and Free Amino Acids in Hyperargininemia: Leukocyte Arginine as a Diagnostic Parameter for Heterozygotes

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