Treatment of Congenital Hyperammonemias

Bachmann, C.

doi:10.1159/000469450

Cited by 19 publications

(7 citation statements)

References 18 publications

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“…In most of these cases, hyperammonemia develops in the neonatal period and clinical features include feeding refusal, vomiting, abnormal muscle tone, lethargy, seizures and coma leading to death within a few days. Recommended guidelines for the initial medical management include protein avoidance, adequate caloric support, supply of arginine and carnitine, and pharmacological priming of alternative pathways for nitrogen excretion [3,4,5]. Poor response to pharmacological therapy requires prompt exogenous removal of toxic compounds to prevent permanent brain damage or death.…”

Section: Introductionmentioning

confidence: 99%

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators

Picca¹,

Dionisi‐Vici

Abeni

et al. 2001

Pediatric Nephrology

164

151

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We investigated the prognostic indicators in ten hyperammonemic neonates: four treated by continuous arteriovenous hemodialysis (CAVHD), four with continuous venovenous hemodialysis (CVVHD), and two with hemodialysis (HD). Plasma ammonium levels decreased significantly within the first 24 h irrespective of dialysis modality (from 1419 to 114 micromol/l, median values; P<0.0001). CVVHD achieved the highest ammonium clearance. HD provided highest ammonium extraction but clearance was hampered by severe hemodynamic instability. Five patients had a good outcome (normal at follow-up of 9-59 months), five had poor outcome (four died and one has severe neurological damage). Total coma duration was shorter in patients who had a good outcome (47+/-11 vs 78+/-13 h; P=0.02). Remarkably, only coma duration before dialysis determined this difference (22.2+/-10.1 vs 48.8+/-11.2 h; P=0.02). In cases with good outcome, coma duration was <33 h, whereas the others exceeded this limit. The prognosis was not related to dialysis modality, rapidity in reducing ammonium levels or to the underlying metabolic defect. In conclusion, results showed CVVHD to be the optimal modality for extracorporeal ammonium detoxification. However, the most relevant indicator for prognosis was coma duration before the start of dialysis. Therefore, major efforts should be made to refer patients quickly to highly specialized centers.

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Section: Introductionmentioning

confidence: 99%

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators

Picca¹,

Dionisi‐Vici

Abeni

et al. 2001

Pediatric Nephrology

164

151

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“…In E.coli K12, the genes involved in methionine biosynthesis are scattered throughout the chromosome (1). Genetic evidence suggested that the expression of all the met genes is subject to a common negative regulatory mechanism (2,3,4).…”

Section: Introductionmentioning

confidence: 99%

Nucleotide sequence ofmetF, theE. colistructural gene for 5–10 methylene tetrahydrofolate reductase and of its control region

et al. 1983

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“…Mean values reported vary between 46% (Green et al, 1983) and 74% (Letarte et aI., 1985). This is in contrast to the reasonable expectation (Bachmann, 1984) that slightly more than the ingested dose of benzoate should be excreted because of the endogenous production of hippurate, which is approximately 0.14 mmolper day in controls and 0.31 mmol per day in hyperammonaemic infants (Green et al, 1983). It has been postulated that the incomplete conversion of ingested benzoate to hippurate is a result of decreased availability of glycine (Simkin and White, 1957).…”

mentioning

confidence: 73%

Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia

Barshop

Breuer

Holm

et al. 1988

J of Inher Metab Disea

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In patients with non-ketotic hyperglycinaemia and two patients with urea cycle disorders treated with varying doses of sodium benzoate there was linear correlation between intake of benzoate and excretion of hippurate. Patients with non-ketotic hyperglycinaemia excreted significantly more benzoate in the form of hippurate than patients with urea cycle disorders (74 +/- 7.0 vs 41 +/- 3.6%). The plasma concentration of glycine decreased following benzoate treatment only in the patients with non-ketotic hyperglycinaemia. The observed difference between the two groups in the excretion of hippurate seems to support the concept that glycine availability may be limiting in benzoate therapy for some patients.

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Treatment of Congenital Hyperammonemias

Cited by 19 publications

References 18 publications

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators

Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators

Nucleotide sequence ofmetF, theE. colistructural gene for 5–10 methylene tetrahydrofolate reductase and of its control region

Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia

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