Lysine Malabsorption Syndrome: A New Type of Transport Defect

PEDIATRICS ◽  
1976 ◽  
Vol 57 (1) ◽  
pp. 102-105
Author(s):  
Kiyoshi Omura ◽  
Nobuko Yamanaka ◽  
Shinobu Higami ◽  
Osamu Matsuoka ◽  
Akie Fujimoto ◽  
...  

A 21-month-old girl with physical and mental retardation is described. She excreted an increased amount of lysine in urine but no excessive quantities of arginine, ornithine, or cystine. Serum level of lysine was found to be low but the levels of the other amino acids were within normal limits. The endogenous renal clearance rates of amino acids showed a marked high value of lysine and normal values of the other dibasic amino acids. Oral loading test of amino acids revealed an impaired absorption of lysine and normal absorption of arginine, ornithine, and cystine in the intestine. These results indicate a specific defect in transport of lysine in the intestine as well as in the renal tubule.

2009 ◽  
Vol 12 (1) ◽  
pp. 15-20 ◽  
Author(s):  
K Popovska-Jankovic ◽  
V Tasic ◽  
R Bogdanovic ◽  
P Miljkovic ◽  
E Baskin ◽  
...  

Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9Cystinuria is an autosomal recessive disorder that is characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and epithelial cells of the gastrointestinal tract. The transport of these amino acids is mediated by the rBAT/b0,+AT transporter, the subunits of which are encoded by the genes SLC3A1, located on chromosome 2p16.3-21, and SLC7A9, located on chromosome 19q12-13.1. Based on the urinary cystine excretion patterns of obligate heterozygotes, cystinuria is classified into type I (normal amino acid urinary pattern in heterozygotes) and non type I (a variable degree of urinary hyper excretion of cystine and dibasic amino acids in heterozygotes). On the basis of genetic aspects, cystinuria is classified into type A, is caused by mutations in both alleles of SLC3A1; type B, caused by mutations in both alleles of SLC7A9 and type AB, is caused by one mutation in SLC3A1 and one mutation in SLC7A9. Here we present two novel mutations in the SLC3A1 gene (C242R and L573X), which were found in patients from Serbia, and three in the SLC7A9 gene (G73R, V375I, 1048-1051 delACTC), found in patients from Serbia, Macedonia and Turkey, respectively.


2021 ◽  
pp. 1-12
Author(s):  
Gerasimos M. Tsivgoulis ◽  
Dimitris G. Vachliotis ◽  
Golfo G. Kordopati ◽  
Panayiotis V. Ioannou

Sulfonates are well-known substances with a variety of applications, e.g. as surfactants. On the other hand, bis(sulfonates) bearing hydroxyl or keto group(s) in between the sulfonate groups can be used with or without further modification as starting materials for the preparation of new type of molecules capable to form either complexes or in general supramolecular structures. The synthesis of three hydroxyl-bearing bis(sulfonates), 2-hydroxypropane-1,3-bis(sodium sulfonate) 4, DL-2,3-dihydroxybutane-1,4-bis(sodium sulfonate) 8, and sodium 2,3,4-trihydroxy-1-sulfonate 7 (as by-product) via the Strecker sulfonation are described. Interestingly, under similar conditions, sulfonation of 1,4-dibromo-2,3-butanedione 9 was found to be very complicated and no pure product could be isolated, despite previously reported results on sulfonation of α-halogenated ketones in high yields. There are indications that SO3 2 -  attacks at the carbonyl carbon of 9 followed by rearrangement and expulsion of SO4 2 - . 1,4-dibromo-2,3-butanedione 9, bearing two keto groups next to methylene groups, can potentially exist as enols or in the case of its solution in hydroxylic solvents in the form of hemiketals or geminal diols. This behavior of 9 when is dissolved in CDCl3, CD3OD and D2O was studied by means of UV-Vis, 1H and 13C NMR and the nature of the adducts formed was elucidated.


1948 ◽  
Vol 21 (4) ◽  
pp. 853-859
Author(s):  
R. F. A. Altman

Abstract As numerous investigators have shown, some of the nonrubber components of Hevea latex have a decided accelerating action on the process of vulcanization. A survey of the literature on this subject points to the validity of certain general facts. 1. Among the nonrubber components of latex which have been investigated, certain nitrogenous bases appear to be most important for accelerating the rate of vulcanization. 2. These nitrogen bases apparently occur partly naturally in fresh latex, and partly as the result of putrefaction, heating, and other decomposition processes. 3. The nitrogen bases naturally present in fresh latex at later stages have been identified by Altman to be trigonelline, stachhydrine, betonicine, choline, methylamine, trimethylamine, and ammonia. These bases are markedly active in vulcanization, as will be seen in the section on experimental results. 4. The nitrogenous substances formed by the decomposition processes have only partly been identified, on the one hand as tetra- and pentamethylene diamine and some amino acids, on the other hand as alkaloids, proline, diamino acids, etc. 5. It has been generally accepted that these nitrogenous substances are derived from the proteins of the latex. 6. Decomposition appears to be connected with the formation of a considerable amount of acids. 7. The production of volatile nitrogen bases as a rule accompanies the decomposition processes. These volatile products have not been identified. 8. The active nitrogen bases, either already formed or derived from complex nitrogenous substances, seem to be soluble in water but only slightly soluble in acetone.


1967 ◽  
Vol 45 (11) ◽  
pp. 2137-2153 ◽  
Author(s):  
A. Fuchs ◽  
R. Rohringer ◽  
D. J. Samborski

Wheat leaves infected with stem rust, especially those of susceptible plants, contained more phenylalanine and tyrosine than healthy leaves. The utilization of phenylalanine was increased in both the susceptible and resistant reaction, but the utilization of tyrosine was increased only in the susceptible reaction. No evidence of interconversion of these amino acids was obtained.In n-butanol extracts, which contained glycosides, many constituents were labelled after feeding of L-phenylalanine-U-14C. Most of the n-butanol extractives from resistant-reacting leaves contained more label than those from susceptible-reacting leaves or from healthy leaves. However, one of the n-butanol extractives from susceptible-reacting leaves was 5–10 times as active as that isolated from the other tissues.With L-phenylalanine-U-14C and ferulate-U-14C as precursors, more activity was recovered in insoluble than in soluble esters (of ferulate and p-coumarate). With L-tyrosine-U-14C as precursor, the reverse was observed. After infection, the proportion of label in insoluble esters increased more in resistant leaves than it did in susceptible leaves, regardless of the precursor used.A major portion of the activity from these precursors was recovered in the insoluble residue that contained protein and other polymers. In the experiment with L-phenylalanine-U-14C, this residue was fractionated into protein and non-hydrolyzable material. Susceptible-reacting leaves contained equal amounts of activity in these fractions, while resistant-reacting leaves incorporated 2.5 times as much activity into the non-hydrolyzable material as into protein.


1976 ◽  
Vol 154 (1) ◽  
pp. 43-48 ◽  
Author(s):  
J D Young ◽  
J C Ellory ◽  
E M Tucker

1. Uptake rates for 23 amino acids were measured for both normal (high-GSH) and GSH-deficient (low-GSH) erythrocytes from Finnish Landrace sheep. 2. Compared with high-GSH cells, low-GSH cells had a markedly diminished permeability to D-alanine, L-alanine, α-amino-n-butyrate, valine, cysteine, serine, threonine, asparagine, lysine and ornithine. Smaller differences were observed for glycine and proline, whereas uptake of the other amino acids was not significantly different in the two cell types.


1963 ◽  
Vol 53 (4) ◽  
pp. 681-713 ◽  
Author(s):  
R. G. Fennah

The feeding of the cacao thrips, Selenothrips rubrocinctus (Giard), on cashew, Anacardium occidentale, one of its host plants in Trinidad, West Indies, is considered in relation to the annual period of maximum population increase on this host and to the choice of feeding sites on individual leaves. On trees observed for three years, populations regularly increased during the dry season, from a low level in December and January to a peak in April or May, and then rapidly declined during the wet season. Even when thrips were most abundant, some trees were free from attack, and this could not be attributed to protective morphological features, to specific repellent substances in the leaf, or to chance. S. rubrocinctus was found to feed on leaves that were subjected to water-stress and to breed only on debilitated trees: the evidence suggested that the adequacy of its supply of nutrients depends on the induction of suitable metabolic conditions within the leaf by water-stress.Both nymphs and adults normally feed on the lower, stomata-bearing surface of the leaf, but in a very humid atmosphere only a weak preference is shown for this surface and if, under natural conditions, it is exposed to insolation by inversion of the leaf, the insects migrate to the other surface. Since the thrips were shown to be indifferent to bodily posture, the observation suggests that their behaviour is governed primarily by avoidance of exposure to undue heat or dryness and only secondarily by the attractiveness of the stomata-bearing surface.Leaves of cashew tend not to become infested while still immature, and become most heavily infested, if at all, soon after they have hardened. Breeding does not occur on senescent leaves. The positions of feeding thrips are almost random on leaves under abnormal water-stress, but otherwise conform to certain patterns that mainly develop in fixed sequence. On reversal of an undetached leaf and consequent transfer of thrips from one surface to the other, there is no appreciable change in their distribution pattern or the apparent acceptability of the substrate. Changes of pattern were readily induced by injury to the plant during a period of water-stress and less easily, or not at all, when water-stress was low. Injury of areas of the leaf by heat was followed by their colonisation by thrips, and partial severance of branches by increased attack on their leaves.Leaves detached from uninfested trees invariably became acceptable for feeding within four hours. During this period, leaf water-content declined and the ratios of soluble-carbohydrate content and α-amino acids to fresh-leaf weight fell slightly and rose considerably, respectively. In the field, the latter ratio was invariably higher for infested than for uninfested leaf tissue, even on portions of the same leaf. If the nutrient value of leaf tissue is determined by the rate at which α-amino acids are extractable through a stylet puncture, the observed change in acceptability for feeding following plucking may be accounted for by the increase in α-amino-acid concentration. Feeding that is restricted on any one tree to the margins of local leaf injuries during prolonged high water-stress and totally absent when stress is low can be correlated with an α-amino-acid content in the living marginal tissue that is high or low, respectively. The ability of thrips to establish themselves and breed on leaves of a particular tree in the dry season and their failure to do so on leaves of the same tree in the wet season conforms with the greater or less amino-acid concentration occurring in the leaf at these respective times.


1993 ◽  
Vol 268 (20) ◽  
pp. 14842-14849
Author(s):  
J. Bertran ◽  
A. Werner ◽  
J. Chillarón ◽  
V. Nunes ◽  
J. Biber ◽  
...  

PEDIATRICS ◽  
1992 ◽  
Vol 90 (1) ◽  
pp. 47-49
Author(s):  
Aengus S. O'Marcaigh ◽  
Lora B. Folz ◽  
Virginia V. Michels

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.


Development ◽  
1981 ◽  
Vol 66 (1) ◽  
pp. 117-126
Author(s):  
Jane Karlsson ◽  
R. J. Smith

It is a general rule that of two complementary Drosophila imaginal disc fragments, one regenerates and the other duplicates. This paper reports an investigation of an exception to this rule. Duplicating fragments from the periphery of the wing disc which lacked presumptive notum were found to regenerate notum structures during and after duplication. The propensity for this was greatest in fragments lying close to the presumptive notum, with the exception of a fragment confined to the posterior compartment, which did not regenerate notum. Structures were added sequentially, and regeneration stopped once most of the notum was present. These results are not easily explained by the polar coordinate model, which states that regeneration cannot occur from duplicating fragments. Since compartments appear to be involved in this type of regeneration as in others, it is suggested that a new type of model is required, one which permits simultaneous regeneration and duplication, and assigns a major role to compartments.


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