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Biomedical subjects

E Jellum

Publications and source records attributed to E Jellum.

At least 127 records · Page 7Linked to original sources
PubMed1977

Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine.

The urinary organic acids were studied in two cases of hyperprolinemia Type II, using various combinations of chromatographic, electrophoretic and mass spectrometric techniques. In both cases N-(pyrrole-2-carboxylic acid) was idenfitied as a major urinary metabolite. While there was evidence for an additional conjugate of this pyrrolic acid, no free pyrrole-carboxylate could be detected in the urine from either case.

Carboxylic Acids↗
PubMed1976

Application of glass capillary-column gas chromatography-mass spectrometry to the studies of human diseases.

Open-tubular glass capillary columns have been used in gas chromatography in combination with mass spectrometry (GC-MS) and computer methods to study human diseases. Patients with maple syrup urine disease excrete not only alpha-keto and alpha-hydroxy acids but also six other metabolites which hitherto have been overlooked. The GC-MS methods demonstrated that a group of patients suffering from hereditary progressive loss of hearing have an impaired metabolism of leucine, leading to the accumulation of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. GC using the capillary columns proved suitable for mapping of the carbohydrate profile of human seminal fluid and for the analyses of organic compounds accumulating in human adipose tissue. The high resolving power and long life of the glass capillary columns suggest that they will be valuable in the diagnosis and study of human disorders.

Adipose Tissue↗
PubMed1975

The development of a computer-assisted search for anomalous compounds (CASAC).

An automated system for the recognition of anomalies in multi-compound mixtures is described. The mixtures to be investigated are injected into a combined gas chromatograph-mass spectrometer and low resolution spectra are acquired by repetitive scanning. Using an on-line computer, all of these spectra are compared with a pre-recorded file of spectra obtained by identical analyses of a "normal" mixture. The matching procedure has been designed to allow for differences in retention times. The CASAC program calculates and plots the degree of coincidence and in this way determines whether the sample spectrum contains fewer or more fragments than the corresponding library spectrum. The system has been applied to studies on pathological urine samples.

Adolescent↗
PubMed1975

Metabolic studies of a family with massive formiminoglutamic aciduria.

We have described two siblings who excrete massive amounts (up to 3.89 mmol/24 hr) of N-formiminoglutamic acid (FIGLU) in their urine. This unusual compound was isolated from urine, purified, and firmly identified as FIGLU by combined gas chromatography-mass spectrometry. The patients presumably have a deficiency in activity of the hepatic enzyme, glutamate formiminotransferase, which carries out the fourth sequential step in the main pathway of histidine degradation. Unlike children reported previously with this disorder, our patients had normal serum folate levels, had no hematologic abnormalities, and were not mentally retarded. Very small amounts of FIGLU were present in the plasma of one of the patients, but FIGLU was not detectable in the cerebrospinal fluid of either patient. Administration of pharmacologic doses of folic or folinic acid produced a decrease in excretion of FIGLU in urine. Histidine loading caused a small and comparable urinary excretion of FIGLU in the children's parents and in control adult subjects.

Amino Acid Metabolism, Inborn Errors↗