Journal Articles
Access journal articles about important clinical trials and scientific research in hyperammonaemia.
Guidelines
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
These revised guidelines, the result of a trans-European consensus, aim to have a positive impact on the outcomes of patients with UCDs by establishing common standards, spreading and harmonizing good practices, as well as identifying voids to be filled by future research.
Häberle et al. J Inherit Metab Dis. 2019;1–39
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness of methylmalonic and propionic acidemia.
Baumgartner et al. Orphanet Journal of Rare Diseases 2014;9:130
Nutritional Management
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias
This study assessed the effects of imbalanced branched-chain amino acid intake on metabolic and growth parameters in a cohort of methylmalonic acidemia (MMA) patients, ascertained via their natural histories.
Manoli et al. Genet Med. 2016;18(4):386–395
Dietary practices in propionic acidemia: A European survey
The aim of this study was to describe European dietary practices in the management of patients with propionic acidaemia (PA), prior to the publication of European PA guidelines.
Daly et al. Mol Genet Metab Rep. 2017;13:83–89
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
An evaluation of data from OAD and UCD patients in the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) to compare current long‐term dietary and supplemental treatments with existing guidelines, and study plasma amino acids levels in patients with this prescribed treatment.
Molema et al. J Inherit Metab Dis. 2019;1–14
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
This study investigated the correlations between plasma L-arginine levels, plasma branched chain amino acids ( L-isoleucine, L-leucine and L-valine) levels (amino acids known to influence growth), and height in MMA/PA and UCD patients.
Molema at al. Mol Genet Metab. 2019;pii: S1096-7192(18)30658-9 [Epub ahead of print]
Acute Management of Hyperammonaemia
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study
This retrospective, multicentre, open-label study evaluated the efficacy and safety of carglumic acid for treating hyperammonaemia during OA decompensation.
Valayannopoulos et al. Orphanet Journal of Rare Diseases. 2016;11:32
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
This post-hoc analysis of two retrospective studies analysed the efficacy of carglumic acid, with or without ammonia scavengers compared with scavengers alone, for reducing plasma ammonia levels in patients with OAs and hyperammonaemia.
Chakrapani et al. Orphanet Journal of Rare Diseases. 2018:13:97
Hyperammonaemia in classic organic acidaemias: A review of the literature and two case histories
This article outlines how the underlying pathophysiology and biochemistry of the organic acidaemias are closely linked to their clinical presentation and management, and provides practical advice for decision-making during early, acute hyperammonaemia and metabolic decompensation in neonates and infants with organic acidaemias.
Haberle et al. Orphanet Journal of Rare Diseases. 2018;13:219
Carglumic acid in hyperammonaemia due to organic acidurias: A profile of its use in the EU
This article reviews the rationale for use of carglumic acid in the treatment of hyperammonaemia due to propionic, methylmalonic and isovaleric acidurias, including its pharmacological properties, clinical efficacy, tolerability profile, and current clinical position, with special focus on the EU.
Blair. Drugs Ther Perspect. 2019;35:101–108
Long-term Management of Hyperammonaemia
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
This paper presents clinical experience from a single-centre cohort of patients with PA and MMA who received continuous long-term treatment with NCG.
Burlina et al. Molecular Genetics and Metabolism Reports. 2016;8:34-40
Carglumic acid in hyperammonaemia due to organic acidurias: A profile of its use in the EU
This article reviews the rationale for use of carglumic acid in the treatment of hyperammonaemia due to propionic, methylmalonic and isovaleric acidurias, including its pharmacological properties, clinical efficacy, tolerability profile, and current clinical position, with special focus on the EU.
Blair. Drugs Ther Perspect. 2019;35:101–108