AOA

Aminoacid and organic acids related disorders
PD 1

PD

Peroxisomal and lipid-related disorders (PD)
LSD

LSD

Lysosomal storage disorders (LSD)
CDG 1

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)
AOA
PM MD

PM-MD

Disorders of pyruvate metabolism, Kre/subnetwork/pm-md/bs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD)
cfao

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorder (C-FAO)
Immagini SNW 344 x 258 px

NOMS

Disorders of neuromodulators and other small molecules (NOMS)

Amino and organic acid disorders are the oldest group of inborn errors of metabolism (IEM). Amino acid and organic acid profiling are essential diagnostic tools for identifying these disorders. Amino acid analysis is widely used, while organic acid profiling is typically limited to specialised hospitals or laboratories. Some of these diseases can be detected through newborn screenings, allowing for early intervention that can prevent serious complications.
Diseases that affect enzymes or the transport of proteins involved in the catabolism of amino acids can result in the buildup of metabolites and intermediate substrates, leading to organic acidemias or acidurias. Some of these disorders are characterised by a peculiar smell or an unusual urine colour. Others, instead, present as severe intoxication disorders that can quickly lead to a coma.

Amino acids represent the building blocks of proteins. They can form long protein chains thanks to peptide bonds, which are strong chemical bonds. Proteins and amino acids can be assimilated through food.

AOA

An enzyme is a protein that can help speed up chemical reactions in cells. In general, every enzyme has a specific function and makes its specific reaction happen more quickly.

AOA

Dietary therapy, often requiring protein restriction, is necessary to manage these disorders, but not all patients are able to remain compliant to it during adolescence and adulthood. In some cases, supplementing with specific vitamins can avoid the need for a strict diet, while enzyme inhibitors may be utilised in other instances. Large differences, however, do exist within EU countries regarding available diet therapies and treatment options for these disorders.

Inhibitors are molecules that can recognise some target enzymes and can block or slow down their activity. Enzyme inhibitors can be really helpful in treating medical conditions because they are able to block the biochemical processes underlying the disease.

AOA

Objectives

The Aminoacid and organic acid subnetwork within MetabERN aims to:

  • gain an overview of patients with aminoacid and organic acid diseases in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
  • promote awareness towards aminoacid and organic acid diseases in the EU.
  • facilitate the more rapid diagnosis of aminoacid and organic acid diseases in the EU as often a significant diagnostic delay is still present.
  • improve and standardize management of aminoacid and organic acid diseases in the EU.
  • improve prospects of patients with aminoacid and organic acid disease in the EU by initiating and contributing to research and implementation of innovative therapies.

Organizational structure

The Aminoacid and organic acid subnetwork will consist of participating HCPs within the MetabERN with expertise in the field of aminoacid and organic acid disorders and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of aminoacid and organic acid disorders. Working groups will be formed to address different important topics within the field of aminoacid and organic acid diseases.

These include:

  • Prevention & Screening for aminoacid and organic acid disorders (including newborn screening).
  • Diagnosis of (new) aminoacid and organic acid disorders (including identification of biomarkers).
  • Management of aminoacid and organic acid disorders (development of clinical guidelines & care paths).
  • Epidemiology & Outcome (participation in existing and development of new registries).
  • Education and Training (development of E-learning tools, work-shops and courses).
  • Virtual Counselling (for specific diseases at different HCPs with specific expertise).
  • Patient Empowerment (organization of patient meetings and interaction with patient organizations).
  • Research (fundamental, translational, clinical).

The executive board of the Aminoacid and organic acid subnetwork will be formed by the chairpersons of the working groups. An advisory board (with members of patients organizations, policymakers, etc) will be appointed to monitor the different activities of the Aminoacid and organic acid subnetwork.

Stefan Kölker, MD

STEFAN KÖLKER, MD

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STEFAN KÖLKER, MD

Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Germany

Trine Tangeraas

TRINE TANGERAAS

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TRINE TANGERAAS

Oslo University Hospital, Norway

Francjan van Spronsen

FRANCJAN VAN SPRONSEN

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FRANCJAN VAN SPRONSEN

University Medical Center Groningen, The Netherlands

Suzan Genova web

Suzan Genova

Suzan Genova

Nataliya Foundation & FAST Bulgaria

Related News

Conditions

Profiles

Van Spronsen Francjan J 1

Francjan van Spronsen

University Medical Center Groningen, The Netherlands
Head of the Division of Metabolic Diseases in the Beatrix Children’s Hospital of the University Medical Center of Groningen

Patient Organisations

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