propionic acidemia/arginīns

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Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia

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Ielogoties Reģistrēties

Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the PCCA or PCCB genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA who was born to consanguineous parents. Biochemical

Emerging trends in management of propionic acidemia.

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UNASSIGNED To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA). METHODS The records of PA patients were retrospectively evaluated. RESULTS The study group consisted of 30 patients with 141 admissions. During metabolic

Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia.

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An infant with propionic acidemia presented at one month of age with hyperammonemic coma. Treatment by two double-volume exchange transfusions did not have an appreciable effect, but hemodialysis led to a substantial reduction of the serum concentration of ammonia on two occasions. Nevertheless,

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.

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The objective of the study is to analyze plasma amino acid concentrations in propionic acidemia (PA) for the purpose of elucidating possible correlations between propionyl-CoA carboxylase deficiency and distinct amino acid behavior. Plasma concentrations of 19 amino acids were measured in 240 random

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

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ractText>Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and

Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.

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The effects of growth hormone treatment and dietary alanine supplementation, individually and in combination, were studied in five patients with organic acidemias. Three patients had propionic acidemia, one had 3-hydroxyisobutyric acidemia, and one had a defect in isoleucine metabolism. Two patients

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

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Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed

Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan.

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Ielogoties Reģistrēties

In a neonatal-screening pilot study for inherited disorders in organic acid and amino acid metabolism, we analyzed butyrated acylcarnitines and amino acids in blood spots of more than 20,000 newborns by electrospray tandem mass spectrometry. In order to screen urea cycle disorders, we performed

Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats.

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Ielogoties Reģistrēties

Hyperammonemia is a common finding in children with methylmalonic acidemia and propionic acidemia, but its contribution to the development of the neurological symptoms in the affected patients is poorly known. Considering that methylmalonic acid (MMA) and propionic acid (PA) predominantly accumulate

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