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Biomedical subjects

K Rasmussen

Publications and source records attributed to K Rasmussen.

At least 433 records · Page 24Linked to original sources
PubMed1977

Glutaric aciduria: clinical and laboratory findings in two brothers.

In two siblings with dystonic cerebral palsy the urinary metabolic profiles of organic acids were dominated by glutaric acid, a metabolite not normally present in urine. The exretion of glutaric acid amounted to several grams per day. The urinary excretion of beta-OH-glutaric acid and glutaconic acid was also enhanced. Imparied metabolism of glutaryl-CoA by leukocytes indicates that the patients suffer from an inborn error of lysine, tryptophan, and hydroxylysine metabolism. A defective oxidation of glutaryl-CoA to crotonyl-CoA, probably due to a deficiency of glutaryl-CoA dehydrogenase, is consistent with these findings.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Low molecular weight organic acids in the urine of the newborn.

The urinary excretion of seven selected low molecular weight organic acids in normal neonates was measured by gas chromatography. First and third to fourth day of life excretion of the following compounds was significantly unchanged: 3-OH-butyric acid (less than 13 mumol/mmol creatinine), succinic acid (approx. 43 mumol/mmol creatinine), adipic acid (approx. 12 mumol/mmol creatinine), 2-OH-glutaric acid (approx. 23 mumol/mmol creatinine), 3-OH-3-Me-glutaric acid (approx. 25 mumol/mmol creatinine) and citric acid (approx. 115 mumol/mmol creatinine). The excretion of 4-OH-phenyl-acetic acid increased during the first four days of life (from less than 8 mumol/mmol creatinine to approx. 20 mumol/mmol creatinine). It is postulated that urinary orgainc acid excretion in the neonate, which is clearly different from the adult urinary pattern, is a reflection of the specific neonatal metabolic situation, including a high fatty acid utilisation and a low protein catabolism.

Adipates↗
PubMed1977

Exercise ECG and case history in the diagnosis of latent coronary heart disease among presumably healthy middle-aged men.

Previously undetected coronary heart disease (CHD) was suspected in 152 of 2014 presumably healthy males aged 40-59 yr. 63 had angina pectoris, 100 a positive exercise test and only 13 both angina and a positive exercise test. Coronary angiography was performed in 105 cases of whom 69 had a positive angiogram. A 2:1 proportion of true vs false positive diagnoses of CHD was found regardless of whether the diagnosis was suspected by the exercise test and/or the case history. Exercise test data show that CHD-suspect individuals differ only marginally from normal age counterparts irrespective of angiographic findings. However, of the 12 with a positive exercise ECG and maximal pulse greater than or equal to 2 SD below normal mean, 10 had pathologic angiograms. Of 58 with positive exercise ECGs and pathological angiograms, 43 had work performance below normal mean. By using a target pulse of 150 beats/minute 69% of the positive exercise ECGs had remained undisclosed.

Adult↗
PubMed1976

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.

Suberylglycine (HOOC(CH2)6CONHCH2COOH) was found in the urine from a patient with C6-C10-omega-dicarboxylic aciduria and unexplained episodes of lethargy and unconsciousness. The total excretion of adipic, suberic and sebacic acid ranged from 0.77 to 1.3 mg/mg creatinine after episodes of acute attack of the disease. Suberylglycine, identified by gas chromatography/mass spectrometry, was repeatedly found in the urine samples. The amount of this conjugate ranged from 0.2 to 0.5 mg/mg creatinine. The precursors of the dicarboxylic acids are suggested to be long chain monocarboxylic acids, oxidized through omega- and beta-oxidation to adipic, suberic and sebacic acid. Suberylglycine is subsequently formed by glycine-N-acylase catalyzed conjugation.

Adipates↗
PubMed1976

A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.

A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.

Child↗