Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.
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Amino Acid Metabolism, Inborn Errors↗
Biomedical subjects
A Gutman
Publications and source records attributed to A Gutman.
[Asthma as the primary manifestation of selective ACTH deficiency associated with latent primary hypothyroidism].
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Adrenocorticotropic Hormone↗
Effect of 24-hour food-and-water deprivation on biochemical variables in blood.
In 38 subjects, 24-h food-and-water deprivation during the Jewish fast day, Tisha b'Av, led to a 2.5-fold increase in plasma free fatty acids and to a doubling of the bilirubin concentration. There were also significant increases in serum sodium, chloride, total proteins, albumin, uric acid, phosphorus and alkaline phosphatase and aspartate aminotransferase activity. Serum glucose and triglycerides decreased in concentration. There were no changes in concentrations of urea, potassium, cholesterol or calcium. The marked increases in free fatty acids might constitute a hazard for those with impaired myocardial function.
Adolescent↗
[Plasma cortisol levels in acute myocardial infarction].
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Adult↗
Renal involvement in Gaucher's disease.
A patient with chronic Gaucher's disease is described who developed glomerulopathy 24 years after splenectomy terminating in renal failure. The pathological changes of this very rare complication of Gaucher's disease are described. The few similar cases reported in the literature are reviewed and the possible pathogenetic pathways discussed.
Female↗
Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
Two cases of congenital lactic acidosis associated with pyruvate carboxylase deficiency are described. One 2-mo-old infant had a fulminant clinical course with extremely severe intractable acidosis and died after 48 h in hospital. The second infant, aged 2 1/2 mo, had a milder clinical course, characterized by moderate acidosis and frequent convulsive episodes. He died at the age of 3 mo due to respiratory arrest following prolonged status epilepticus. Pyruvate carboxylase activity in liver biopsy specimens obtained from the two patients was 1 and 50% of normal, respectively. Both patients failed to respond to treatment, including massive doses of thiamine and high serum levels of lactate and pyruvate were found throughout their illnesses. Cerebral autopsy performed in both cases was unremarkable. Absence of neuropathological findings ruled out the possibility of Leigh's disease.
Acidosis↗
Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism.
A male with pseudohypoparathyroidism presented with several hormonal abnormalities. He was clinically euthyroid with no palpable goiter, His serum T4, total T3, T3 Sephadex retention, and 131I uptake were normal. However, elevated basal TSH levels and exaggerated TSH responses to TRH which normalized during the administration of thyroid extract suggested reduced thyroidal reserve. Despite these finding the 131I uptake increased after exogeneous TSH, and the T3 level rose after TRH. Basal testosterone levels and response to hCG were normal however, gonadotropins were elevated and there was an exaggerated response after LRH treatment. Both LH and FSH levels were suppressed by testosterone propionate. The patient demonstrated intermittent basal hyperprolactinemia and impaired PRL responsiveness after metolopramide, chlorpromazine, and insulin administration. There was, however, an intact response to TRH. Basal PRL, TSH, and LH levels decreased after the administration of L-dopa and bromocriptine. Although the precise mechanism underlying these finding is unknown, the elevated basal levels of TSH, LH, and FSH and the exaggerated responses to their respective releasing hormones suggest the presence of partial degree of end-organ resistance to these pituitary trophic hormones. Together with the resistance to PTH, this may imply a common defect, presumably at a postreceptor level. However, hyporesponsiveness of PRL to metoclopramide and chlorpromazine and normal responsiveness to TRH suggest that an abnormality of dopamine tone also exists in pseudohypoparathyroidism.
Adolescent↗
Glycogen metabolism of the human endometrium.
The glycogen concentration and the activities of glycogen synthetase and phosphorylase were assayed in endometrial tissue obtained during curettage. Tissues were obtained during different phases of the menstrual cycle from women investigated because of menometrorrhagia or sterility. The glycogen concentration was less than 2 mg/g wet wt in specimens from days 1-15 and increased 10-fold during the early secretory phase. The total activities of glycogen synthetase and phosphorylase were increased 1.5- and 2-fold, respectively, during the secretory phase compared to those during the first half of the cycle. The activities of the active forms (a form) of these enzymes did not show significant changes during the menstrual cycle. The largest difference between the proliferative and secretory phases was in the activity of glycogen synthetase phosphatase, which was virtually inactive in tissues obtained on days 1-15 and increased almost 20-fold during the secretory part of the cycle. In tissues obtained from cases of sterility, the activities of glycogen synthetase and phosphorylase were significantly reduced only during the early secretory phase. Glycogen concentration throughout the menstrual cycle and enzyme activities during the midsecretory and premenstrual phase were similar in cases of sterility and other pathologies.
Adult↗
[Leiomyoma of the small bowel with hypercalcaemia: presence of a substance with parathormone activity (author's transl)].
A leiomyoma of the small bowel produced laboratory features of hyperparathyroidism which disappeared promptly after tumour resection. Hypercalcaemia, hypophosphatemia, hyperchloremia, elevated chloride/phosphorus ratio, increased urinary cyclic AMP, and blood levels of immunoreactive parathormone were present. Electron microscopy showed dense round granules in the tumour cells.
Aged↗
Rat liver glycogen metabolism in the perinatal period.
The correlation between blood glucose levels, the concentration of glycogen, the activities of glycogen synthase and phosphorylase and their respective kinases and phosphatases was examined in liver of rat fetuses between day 18 of gestation and one day after birth. Between day 18 and 21 there is a rapid increase in the concentration of glycogen and in the activity of synthase a and a much slower increase in the activity of phosphorylase a. The activity of the respective kinases increased rapidly during this period and reached maximum on day 21. The activity of synthase phosphatase and phosphorylase phosphatase increased after day 18, to reach a maximum on day 19 and 20, respectively, but decreased again towards day 21. The possibility that the changes in glycogen concentration and enzyme activities were related to an effect of glucose or AMP on the respective phosphatases was considered. It was found that the Km of phosphorylase phosphatase for glucose in the prenatal period was 5--7 mM, as in the adult. Since the level of blood glucose during this period was constant (2.8 mM), an effect of glucose on phosphatase activity seems unlikely. AMP concentration increased between day 18 and 21 from 6--15 nmol/g. In view of the low level of phosphorylase a activity during this period, the increase in AMP concentration is not considered to be important in the regulation of glycogen breakdown at this time. Immediately after birth blood glucose levels dropped to 5 mg/dl. This was accompanied by a rapid decrease in glycogen concentration and in the activity of glycogen synthase and a rise in phosphorylase activity. Blood glucose levels returned to the initial level within 1 h after birth, whereas the changes in glycogen concentration and enzyme activities continued for at least 3 h after birth. On day 22 all parameters examined had reached the level found in adult rat liver. It is suggested that the rapid changes observed immediately after birth are due to an effect of gypoglycemia mediated by hormones and cannot be ascribed to direct effects of metabolites on the enzyme systems involved.
Animals↗
[Association between disturbances in intestinal absorption or glucose and G6PD deficiency in immigrants from Kurdistan].
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Glucose↗
X-linked dyskeratosis congenita with pancytopenia.
Two maternal male cousins in a Jewish Iraqi kindred were affected with dyskeratosis congenita and had a megaloblastic bone marrow. One cousin had pancytopenia and the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a beta-thalassemia trait. The following genetic "markers" of the X chromosome were studied: G6PD, the X-linked blood groups Xg, and color vision. Linkage analysis indicated that dyskeratosis, G6PD, and Xg are far apart on the X chromosome. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells. The proband's cultured fibroblasts did not show increased susceptibility to malignant transformation by simian virus 40, an oncogenic virus.
Adolescent↗
Abnormal platelet glycogen metabolism in multiple myeloma patients.
This study presents evidence on the occurrence of an inverse relationship between activation of glycogen synthetase and inactivation of phosphorylase in a platelet preparation in vitro. The activities of glycogen synthetase and phosphorylase and the pattern of changes in these activities in platelets from controls and multiple myeloma patients were compared. Platelets obtained from multiple myeloma patients were shown to have an increased glycogen content, accompanied by an elevated level of glycogen synthetase a and a decreased activity of phosphorylase a. The pattern of changes in these enzyme activities during incubation was also different in platelets of controls and multiple myeloma patients. Extracts from patients' platelets prevented glycogen synthetase activation and phosphorylase inactivation of control platelets. Preincubation of platelets from multiple myeloma patients in control plasma resulted in an increased rate of glycogen synthetase activation, and abolished activation of phosphorylase which was found after preincubation in autologous plasma.
Adult↗
Regulation of glycogen synthetase and phosphorylase phosphatase activities in rat adipose tissue.
Incubation of a rat adipose tissue homogenate causes a time and temperature dependent activation of glycogen synthetase (UDP glucose:glycogen 4-alpha-glucosyltransferase) and simultaneous inactivation of phosphorylase (1,4-alpha-D-glucan: orthophosphate alpha-glucosyltransferase, EC 2.4.1.1). Activation of glycogen synthetase at 15 and 23 degrees C was preceded by a lag period. The duration of the lag period could not be correlated with significant changes in phosphorylase activity. Addition of glucose and methylxanthines caused an increase in the rates of glycogen synthetase activation and phosphorylase inactivation. The effect on glycogen synthetase activation was mainly on the linear phase. Addition of AMP inhibited phosphorylase inactivation and accelerated glycogen synthetase activation. Addition of muscle phosphorylase alpha caused a prolongation of the lag period which lasted until phosphorylase alpha activity had decreased to the level originally present in the preparation. It is concluded that in adipose tissue activation of glycogen synthetase is not dependent on prior inactivation of phosphorylase and that other factors should be looked for to explain the lag period preceding glycogen synthetase activation.
Adenosine Monophosphate↗
Lipolysis in brown adipose tissue of cold- and heat-acclimated hamsters.
Rates of release of free fatty acids (FFA) and glycerol to the incubation medium by brown adipose tissue (BAT) slices isolated from heat-acclimated (H), cold-acclimated (C), and control (N) hamsters in the absence or presence of epinephrine (E) were studied. Rates of FFA and glycerol release by tissue slices isolated from H and N animals were similar. In tissue slices isolated from C animals rate of release of FFA and glycerol was three times as high. Addition of E to the incubation medium (200 microgram/ml) had no effect on the rate of FFA and glycerol release of slices from C animals, but tripled the rates of slices from N, resulting in similar values for the two groups. In slices from H animals the rate of release was lower than in the other two groups, increasing only 1.5-fold. Pretreatment of N animals with triiodothyronine (T3; 0.8 microgram/100 g daily for 7 days) doubled the rates of FFA and glycerol release. Addition of E to the medium affected both pretreated and nontreated slices similarly. Two possible mechanisms by which temperature acclimation controls the lipolytic rate of BAT are suggested by 1) the concentration of specific enzymes and 2) cellular metabolites and hormones which activate existing systems. It seems that both operate in temperature-acclimated hamsters.
Acclimatization↗
Lupus erythematosus cells in pleural effusion: the initial manifestation of procainamide-induced lupus erythematosus.
A 63-year-old man developed an asymptomatic pleural effusion following the administration of 500 gm of procainamide hydrochloride over a six-month period. The diagnosis was initially suggested by the finding of lupus erythematosus cells in the pleural fluid. Lupus erythematosus cells and antinuclear antibodies appeared in the blood two months later and remained for a period of six months. The diagnosis was corroborated by the presence of antibodies to denatured DNA, but not to native DNA.
Antibodies, Antinuclear↗
Positive contrast, negative induction, and inhibitory stimulus control in the rat.
In Experiment I, 24 rats were trained on a multiple variable-interval variable-interval schedule with a doorlight and white noise serving as component cues. Two groups were then shifted to a multiple extinction variable-interval schedule, and a third group was maintained on the multiple variable-interval variable-interval schedule. The multiple extinction variable-interval condition produced positive contrast when either the light or noise signalled extinction, and both of these cues acquired inhibitory stimulus control as measured by a combined cue test. In Experiment II, the multiple variable-interval variable-interval condition was shifted to multiple extinction variable-interval for one group, to multiple variable-time variable-interval for a second group, and was unchanged for the third group. The two experimental conditions produced identical patterns of response-rate reduction in the altered component, but the multiple extinction variable-interval condition produced positive contrast, whereas the multiple variable-time variable-interval condition did not. Subsequent combined cue and resistance to reinforcement tests revealed that the cue signalling extinction acquired stronger inhibitory stimulus control than the cue signalling variable time.
Journal Article↗