Related Experiment Video
Updated: Aug 18, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
O-phosphohydroxylysinuria: a new inborn error of metabolism?
L Dorland1, M Duran, P K de Bree
1University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Abstract:
An abnormal ninhydrin positive compound was observed in the urine of two unrelated patients with neurological abnormalities. The compound was isolated by cation exchange followed by preparative paper chromatography and finally purified via cation exchange column chromatography. Its identification as O-phosphohydroxylysine resulted from FAB mass spectrometry and NMR spectroscopy. Chemical synthesis confirmed the structure. It was tentatively postulated that these patients had a defect of the metabolism of hydroxylysine, viz., a deficiency of the enzyme O-phosphohydroxylysine phospholyase.
Related Concept Videos
Lysosomal Hydrolases
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Inborn Errors of Metabolism
Physiology of Urine Formation
Glomerular Filtration
The first stage in urine formation is glomerular filtration. Each kidney contains approximately 1 million nephrons, the functional units of filtration, with a...
Pharmacokinetics in Pediatric Patients: Drug Metabolism

