[Prevention and treatment of inborn errors of metabolism (author's transl)].
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Biomedical subjects
Publications and source records attributed to K Tada.
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Congenital anomalies of the carpus associated with congenital hand and upper limb anomalies were investigated from the point of view of the development of the hand. Defects of the carpus were categorized as follows: 1) Radial ray defect: loss of the scaphoid, trapezium and trapezoid. 2) Central ray defect: loss of the capitate and loss of a part of the trapezium and hamate. 3) Ulnar ray defect: loss of the triguetrum, pisiformis and hamate. Deficiencies of the carpus and more distal parts of the hand proved to be secondary to defects of the forearm bones in both the radial and ulnar ray. On the other hand deficiency of the carpus was secondary to defects of the phalanx and metacarpal of the middle finger in the central ray. Thus, from the standpoint of the development of the carpus, bipolar development of the bones of the hand originates proximally in both the radial and ulnar rays and distally in the central ray.
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The activity of alpha-L-iduronidase was determined in leukocytes from two patients with the Hurler syndrome, five obligatory heterozygotes, one patient with the Hunter syndrome, and ten normal individuals. It was found that the determination of alpha-L-iduronidase in leukocytes was a useful method for differential diagnosis between the Hurler and Hunter syndromes. Heterozygotes of the Hurler syndrome showed approximately 50% level of alpha-L-iduronidase activity in leukocytes as compared with that of normal individuals. This suggests that the determination of alpha-L-iduronidase activity may be available for the carrier detection of the Hurler syndrome.
A 16-month-old female infant with severe mental and motor retardation, clinically diagnosed as Leigh's encephalomyelopathy, forms the basis of this study. This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine. These laboratory studies suggested an inborn error in gluconeogenesis. Further investigation revealed a low level of hepatic pyruvate carboxylase activity. The patient's elder sister who also had mental and motor deterioration was then also found to have an elevated blood lactate. These two siblings clinically and biochemically showed improvement with treatment consisting of thiamine and lipoic acid.
Three groups of Donryu rats, each consisting of 36 females, were continuously given solutions of 1-butyl-3,3-dimethyl-1-nitrosourea as drinking water (400 ppm for group A, 200 ppm for group B 100 ppm for group C). Of the 100 rats that survived at least 122 experimental days, 64 developed leukemia and 38 had vaginal tumors. Leukemias were preponderant in animals of groups A and B; vaginal tumors appeared in group C.
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Evidence is presented that proglucagon from anglefish islets is a single chain polypeptide with 78 amino acid residues and that the glucagon portion of it is liberated after tryptic cleavage. The most striking characteristic in the conversion of the anglerfish proglucagon to glucagon is that the cleaved peptide bonds display enormous sensitivity toward trypsin. Thus, conversion of the prohormone to glucagon occurs very rapidly within 3-10 min with a 1:500-1:1000 molar ratio of enzyme to substrate. Further, trypic cleavage of the anglerfish glucagon requires higher concentrations of trypsin (molar ratio 1:25 enzyme to substrate) and longer incubation time. The behavior of proglucagon and glucagon toward trypsin shows striking similarities with the tryptic conversion of anglerfish proinsulin to insulin.
The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.
A new non-invasive method for the assessment of cerebral collateral circulation via the circle of Willis using an ultrasonic directional Doppler flowmeter is described. The technique was found useful in measuring the capacity of cerebral collateral circulation and would be applicable not only in internal medicine but also in neurosurgery.
The authors successfully used a newly-devised metal prosthesis anchored by acrylic cement in four patients with cervical spinal tumor. Two of these patients suffered incomplete quadriplegia due to epidural infiltration of the tumor and required laminectomy. Severe neck pain was relieved in all cases, and neurological improvement was maintained until death.
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