Related Experiment Video
Updated: Sep 27, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
[Treatment of inborn metabolic disorders]
Allan Meldgaard Lund1, Flemming Skovby
1Klinisk genetisk afdeling 4062, H:S Rigshospitalet, Blegdamsvej 9, DK-2100 København ø.
Abstract:
Biochemical knowledge about inborn errors of metabolism has increased considerably and new biochemical technology has improved our diagnostic possibilities. Therapy includes diet with substrate restriction and supplementation of deficient metabolites, medical reduction of substrate, inhibition of catabolic pathways, vitamins, enzyme substitution, enzyme stabilisation, and transplantation. A future possibility is somatic gene therapy. Treatment of many metabolic disorders is now possible, but it is important to establish both national and international expertise for proper use of new therapies and their evaluation.
Related Concept Videos
Inborn Errors of Metabolism
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Pharmacokinetics in Pediatric Patients: Drug Excretion
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Overview of Carbohydrate Metabolism
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
