Literature DB >> 24144944

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

M Mokhtarani1, G A Diaz, W Rhead, S A Berry, U Lichter-Konecki, A Feigenbaum, A Schulze, N Longo, J Bartley, W Berquist, R Gallagher, W Smith, S E McCandless, C Harding, D C Rockey, J M Vierling, P Mantry, M Ghabril, R S Brown, K Dickinson, T Moors, C Norris, D Coakley, D A Milikien, S C Nagamani, C Lemons, B Lee, B F Scharschmidt.   

Abstract

BACKGROUND: Phenylacetic acid (PAA) is the active moiety in sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB, HPN-100). Both are approved for treatment of urea cycle disorders (UCDs) - rare genetic disorders characterized by hyperammonemia. PAA is conjugated with glutamine in the liver to form phenylacetyleglutamine (PAGN), which is excreted in urine. PAA plasma levels ≥ 500 μg/dL have been reported to be associated with reversible neurological adverse events (AEs) in cancer patients receiving PAA intravenously. Therefore, we have investigated the relationship between PAA levels and neurological AEs in patients treated with these PAA pro-drugs as well as approaches to identifying patients most likely to experience high PAA levels.
METHODS: The relationship between nervous system AEs, PAA levels and the ratio of plasma PAA to PAGN were examined in 4683 blood samples taken serially from: [1] healthy adults [2], UCD patients of ≥ 2 months of age, and [3] patients with cirrhosis and hepatic encephalopathy (HE). The plasma ratio of PAA to PAGN was analyzed with respect to its utility in identifying patients at risk of high PAA values.
RESULTS: Only 0.2% (11) of 4683 samples exceeded 500 μg/ml. There was no relationship between neurological AEs and PAA levels in UCD or HE patients, but transient AEs including headache and nausea that correlated with PAA levels were observed in healthy adults. Irrespective of population, a curvilinear relationship was observed between PAA levels and the plasma PAA:PAGN ratio, and a ratio>2.5 (both in μg/mL) in a random blood draw identified patients at risk for PAA levels>500 μg/ml.
CONCLUSIONS: The presence of a relationship between PAA levels and reversible AEs in healthy adults but not in UCD or HE patients may reflect intrinsic differences among the populations and/or metabolic adaptation with continued dosing. The plasma PAA:PAGN ratio is a functional measure of the rate of PAA metabolism and represents a useful dosing biomarker.
© 2013.

Entities:  

Keywords:  BUPHENYL; GEE; GPB; Glycerol phenylbutyrate; HE; HPN-100; NaPBA; Neurological adverse events; PAA; PAA:PAGN ratio; PAGN; PBA; RAVICTI; SE; SO; Sodium phenylbutyrate; UCD; generalized estimating equations; glycerol phenylbutyrate (generic name for glyceryl tri (4-phenylbutyrate), also referred to as HPN-100 or RAVICTI(®)); hepatic encephalopathy; phenylacetic acid; phenylacetylglutamine; phenylbutyric acid; ratio of the concentrations in μg/mL of PAA to PAGN in plasma; safety extension; sodium phenylbutyrate (BUPHENYL(®)); switchover; urea cycle disorder

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Year:  2013        PMID: 24144944      PMCID: PMC4108288          DOI: 10.1016/j.ymgme.2013.09.017

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  35 in total

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8.  Phase I study of phenylacetate administered twice daily to patients with cancer.

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5.  Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.

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7.  Glutamine and hyperammonemic crises in patients with urea cycle disorders.

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