Journal of Nutrition and Metabolism

Amino Acids and Inherited Amino Acid-Related Disorders


Status
Published

Lead Editor

1National Centre for Inherited Metabolic Disorders, Dublin, Ireland

2Children’s Hospital Colorado, Aurora, USA

3Royal Belfast Hospital for Sick Children, Belfast, UK

4Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany


Amino Acids and Inherited Amino Acid-Related Disorders

Description

Amino acids perform multiple essential physiological roles in humans, and, accordingly, their importance to health has been the subject of extensive attention. Inborn disorders affecting amino acid metabolism are generally rare but, by their very nature, complex and challenging conditions. Amino acid metabolism disorders comprise a very heterogeneous group of disease entities with a highly variable degree of onset and presentation. Clinical severity may range from incidental findings in some to overwhelming illness, brain damage, or multiorgan involvement in others.

Inborn amino acid-related disorders are generally caused by an inherited defect in the metabolic pathways, transport, or processing of a particular amino acid or a group of amino acids. Examples include Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria (HCU), and Urea Cycle Defects and Organic Acidurias, also called Organic Acidaemias, such as methylmalonic acidaemia (MMA).

Treatment goal for affected patients is to normalise the striking metabolic imbalance as much as possible by implementing dietary treatment and medication or cofactor supplementation along with patient monitoring and emergency treatment as required. In recent times, advances in diagnostic technology, including expanded newborn blood spot screening as well as major advances in treatments, have led to an exciting increase in the body of knowledge regarding amino acid-related disorders which will help to continuously improve our patient outcomes.

In this special issue, we will aim to provide some new insights into the pathophysiological roles of amino acids and treatment of inborn errors of amino acid metabolism in humans. We particularly welcome papers exploring novel therapies and patient outcomes, including interesting clinical studies, or focusing on the theoretical underpinning of such therapies.

Potential topics include but are not limited to the following:

  • Rare inborn errors of amino acid/protein metabolism
  • Diagnostic, patient management, and treatment
  • Role of specific dietary amino acids in inborn disorders
  • Novel approaches to therapy and clinical studies
  • Newborn blood spot screening for inborn amino acid-related disorders
  • Outcome of patients with inborn amino acid metabolism disorders
  • Controversies and potential future directions

Articles

  • Special Issue
  • - Volume 2018
  • - Article ID 5629454
  • - Editorial

Amino Acids and Inherited Amino Acid-Related Disorders

Ina Knerr | Laurie Bernstein | ... | Jörn Oliver Sass
  • Special Issue
  • - Volume 2018
  • - Article ID 2178346
  • - Research Article

Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results

Anne Clark | Deirdre Deverell | ... | Ahmad Monavari
  • Special Issue
  • - Volume 2018
  • - Article ID 5124035
  • - Research Article

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry

Jaraspong Uaariyapanichkul | Sirinuch Chomtho | ... | Orapa Suteerojntrakool
  • Special Issue
  • - Volume 2018
  • - Article ID 6352919
  • - Clinical Study

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Kirsten K. Ahring | Allan M. Lund | ... | Lisbeth B. Møller
  • Special Issue
  • - Volume 2017
  • - Article ID 6859820
  • - Clinical Study

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods

Bridget M. Stroup | Denise M. Ney | ... | Harvey L. Levy
  • Special Issue
  • - Volume 2017
  • - Article ID 8570469
  • - Research Article

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

Orla Purcell | Aoife Coughlan | ... | Ellen Crushell
  • Special Issue
  • - Volume 2017
  • - Article ID 4083293
  • - Review Article

Multiclinic Observations on the Simplified Diet in PKU

Laurie Bernstein | Casey Burns | ... | Frances Rohr
Journal of Nutrition and Metabolism
 Journal metrics
Acceptance rate36%
Submission to final decision119 days
Acceptance to publication32 days
CiteScore3.100
Impact Factor-
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