PubMed Health⌕ Search

Biomedical subjects

J M Trijbels

Publications and source records attributed to J M Trijbels.

At least 145 records · Page 8Linked to original sources
PubMed1978

An unusual form of galactosemia: studies on erythrocytes and hair roots.

An unusual form of galactosemia is described in a 7-month-old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose-1-phosphate uridyl transferase (GT) was measured with the spectrophotometric UDP-Glucose consumption test(+/-25% of normal). The residual activity in erythrocyte lysates, determined when the patient was 7, 16 and 22 months old, significantly decreased upon storage and after preincubation with NAD-ase. The radiochemical measurement of GT activity demonstrated a severe deficiency: only a level of +/-1% of normal activity was observed, and no effects of storage or NAD-ase could be demonstrated. GT and galactokinase (GK) activities were measured radiochemically in lysates from hair roots obtained from the human scalp, and it was found that the GT/GK activity ratio is a useful index for the detection of heterozygotes. Erythrocyte and hair root lysates from the heterozygous parents of the patient displayed GT/GK ratios which were intermediate between mutant and normal. Because they offer a simple and fast way to obtain biopsy material, hair roots might become of increasing importance for carrier detection studies.

Adult↗
PubMed1978

Oculocutaneous albinism associated with motor neuron disease.

The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. In suralis nerve biopsy sections no abnormalities were found. In muscle biopsy sections the characteristic findings of a primary central neuronal muscular atrophy were seen. Based on clinical and histopathological findings it may be stated that the patient is suffering from a motor neuron disease. The chance of the combined occurrence of oculocutaneous albinism and motor neuron disease can be estimated to be one out of 750 X 10(6), unless an incestuous relation is supposed.

Adolescent↗
PubMed1977

Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism.

A very unusual pattern of organic acid excretion was established in the urine of two premature newborns with severe respiratory distress and cerebral haemorrhages. By combined gas chromatography/mass spectrometry the following acids were identified: lactic acid, alpha-hydroxy-butyric acid, beta-hydroxy-butyric acid, alpha-hydroxy-isovaleric acid, and p-hydroxy-phenyllactic acid. Calculation of the concentration revealed an excessive excretion of lactic acid and also very high excretion of the other acids. A postmortem blood sample from one of the patients revealed a comparable pattern. The abnormal urinary organic acid excretion pattern was most probably caused by severe tissue hypoxia.

Cerebral Hemorrhage↗
PubMed1977

L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.

L-Ornithine-ketoacid-transaminase deficiency was established in cultured fibroblasts obtained from a patient with hyperornithinaemia (mean ornithine level in serum approximately 100 mumol/l) and gyrate atrophy of the choroid and retina. The deficiency was found both the L-ornithine concentrations of 3.0 mM (about twice the KM value) and 12 mM, indicating that the enzymic defect was not due to a decreased affinity for this substrate. The reliability of the colorimetric assay of ornithine-ketoacid-transaminase activity was established radiochemically. Performance of the radiochemical assay revealed the presence of an impurity in the substrate DL-[2-14C]ornithine - HCl being a strong inhibitor of the enzyme. The passage level and the subcultivation time of the fibroblasts did not influence the enzymic activity.

Amino Acids↗
PubMed1977

Blood sampling technique for lactate and pyruvate estimation in children.

The effects of stress and muscular movements caused by direct venepuncture and of venestasis on the lactate and pyruvate levels in children have been examined. Direct venepuncture and venestasis significantly influence the obtained values. To measure reliable values for pyruvate and lactate in blood of children it seems advisable to insert an indwelling intravenous cannula. After 45 min of rest in bed the blood sample can be obtained.

Blood Specimen Collection↗
PubMed1977

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue.

A patient is described with subacute necrotizing encephalomyelopathy proven by autopsy. A slight increase of blood pyruvate and lactate levels with an increased lactate/pyruvate ratio and frequently increased beta-hydroxybutyrate/acetoacetate ratio suggested a disorder of mitochondrial oxidation. A cytochrome c oxidase deficiency was shown in peripheral muscle tissue with some residual cytochrome c oxidase activity in heart muscle. Normal cytochrome c oxidase activity was present in liver tissue. Because of the markedly higher levels of pyruvate and lactate in CSF compared with blood and an increased lactate/pyruvate ratio in CSF, there may also have been defective activity of cytochrome c oxidase in brain tissue. After a period of apparently normal development, the child's clinical condition gradually deteriorated and she died at age 6 years due to respiratory insufficiency. This study illustrates the fact that Leigh's disease is not linked to a single inherited molecular defect.

Acetoacetates↗
PubMed1976

Cardiomyopathy and short stature associated with mitochondrial and/or lipid storage myopathy of skeletal muscle.

The patient described in this report was an 11-year-old girl with a negligible heart murmur. The length was below 10th percentile. There appeared to be a cardiomyopathy with, at that moment, no signs of obstruction. There were no evident clinical symptoms of myopathy of skeletal muscle. However, electromyography was myopathic. Biochemical studies revealed no abnormalities. In muscle biopsy sections, the Sudan staining reactions revealed the presence of large amounts of sudanophilic droplets, predominantly in type I fibers. Electronmicroscopy demonstrated lipid excess and accumulations of enlarged, mostly rounded mitochondria in a subsarcolemmal location, with closely packed cristae. In many mitochondria a dense osmiophilic material was present in the spaces between the cristal membranes. The patient's parents were first cousins. One of her brothers who died at the age of 4 1/2 years presumably suffered from the same disease. The pattern of inheritance is most probably autosomal recessive.

Adenosine Triphosphatases↗
PubMed1975

Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.

A patient with infantile Gancher's disease is described. A marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes, whereas in cultured skin fibroblasts the activity at both pH'S 4.2 and 5.2 was decreased. Examining the leukocytes of the heterozygous parents the activities of beta-glucosidase at both pH's were within the values of controls, but the ratio's of activity of pH 5.2 to that at pH 4.2 were increased lying between the ratio's from the patient and controls.

Cells, Cultured↗