Human medicines European public assessment report (EPAR): Carbaglu, carglumic acid, Amino Acid Metabolism, Inborn Errors,Propionic Acidemia, Date of authorisation: 24/01/2003, Revision: 17, Status: Authorised

This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, propionic acidemia (PPA), or methylmalonic aciduria (MMA). In early infancy, the diet prescription is frequently adjusted to search for the infant's tolerance level of restricted amino acids. The levels must be established when natural foods other than milk are added to the PMD. The amino acids restricted are leucine, isoleucine, and valine in MSUD; leucine in HMG-CoA lyase deficiency; and isoleucine, methionine, threonine, and valine in PPA and MMA. Efficacy of the PMD depends on accuracy in prediction of the restricted amino acid requirement and the willingness and ability of parents and patients to conform to its demands. (J Child Neurol 1992;7(Suppl):S92-S111.)

Download Full-text

Human medicines European public assessment report (EPAR): Orphacol, cholic acid, Digestive System Diseases,Metabolism, Inborn Errors, Date of authorisation: 12/09/2013, Date of refusal: 25/05/2012, Revision: 6, Status: Authorised

Case Medical Research ◽

10.31525/cmr-11ef044 ◽

2019 ◽

Author(s):

Keyword(s):

Cholic Acid ◽

Digestive System ◽

Inborn Errors ◽

Assessment Report ◽

European Public ◽

European Public Assessment Report ◽

Digestive System Diseases

Download Full-text

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Communications Biology ◽

10.1038/s42003-021-01909-5 ◽

2021 ◽

Vol 4 (1) ◽

Author(s):

Rianne E. van Outersterp ◽

Sam J. Moons ◽

Udo F. H. Engelke ◽

Herman Bentlage ◽

Tessa M. A. Peters ◽

...

Keyword(s):

Amino Acid ◽

Amino Acid Metabolism ◽

Acid Metabolism ◽

The Body ◽

Inborn Errors ◽

Primary Metabolite ◽

Diagnostic Strategies ◽

Ion Spectroscopy ◽

Disease Biomarkers ◽

Amadori Rearrangement

AbstractThe identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology. A primary metabolite that accumulates in the inborn error phenylketonuria is phenylalanine, however its levels do not always directly correlate with clinical outcomes. Here we combine infrared ion spectroscopy and NMR spectroscopy to identify the Phe-glucose Amadori rearrangement product as a biomarker for phenylketonuria. Additionally, we find analogous amino acid-glucose metabolites formed in the body fluids of patients accumulating methionine, lysine, proline and citrulline. Amadori rearrangement products are well-known intermediates in the formation of advanced glycation end-products and have been associated with the pathophysiology of diabetes mellitus and ageing, but are now shown to also form under conditions of aminoacidemia. They represent a general class of metabolites for inborn errors of amino acid metabolism that show potential as biomarkers and may provide further insight in disease pathophysiology.

Download Full-text