Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Before dietary treatment, no significant differences, except for alanine, were found in the amino acid pattern for 22 young mothers and 33 children with protein-energy malnutrition (PEM), the characteristic feature of the serum pattern being the imbalance between essential and non essential amino acids. Apart from lysine, the essential amino acid levels were all below normal. This imbalance may be detected readily from the abnormal values of some particularly sensitive ratios: phenylalanine/tyrosine, valine/glycine, non essential amino acids/essential amino acids and, above all, serine/threonine. A striking finding was the very low threonine levels in all subjects, including local controls and the extremely low tryptophan levels in malnourished children. Before treatment, almost all the erythrocyte amino acid levels as well as the E/S ratios (erythrocytes/serum) were found to be raised in 9 children, demonstrating their poor clinical status. The urinary amino acid level was similar in both, patients before treatment and local controls. The urinary threonine level was low, like in the serum. A normalisation in most of the amino acid levels in the serum was observed upon dietary rehabilitation although not yet significant in all of them. In urine a similar tendency was observed but it was significant for threonine and methionine only, after 2 weeks treatment. Some additional urinary amino acid assays revealed changes upon two weeks dietary rehabilitation that can be interpreted as an increased production of enzymes affected by PEM as well as a growth of the patients' muscular mass. Increased free amino acid losses in the stools, caused by diarrhoea due to secondary malabsorption, and various viral and bacterial infections accompanying malnutrition, illustrate the severity of the diarrhoea.
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PMID:Biochemical study of malnutrition. Part IV. Determination of amino acids in the serum, erythrocytes, urine and stool ultrafiltrates. 678 95

Our objective was to measure maternal plasma and amniotic fluid amino acid concentrations in pregnant women diagnosed as having fetuses with gastroschisis in the second trimester of pregnancy. Twenty-one pregnant women who had fetuses with gastroschisis detected by ultrasonography (gastroschisis group) in the second trimester and 32 women who had abnormal triple screenings indicating an increased risk for Down syndrome but had healthy fetuses (control group) were enrolled in the study. Amniotic fluid was obtained by amniocentesis, and maternal plasma samples were taken simultaneously. The chromosomal analysis of the study and control groups was normal. Levels of free amino acids and non-essential amino acids were measured in plasma and amniotic fluid samples using EZ:fast kits (EZ:fast GC/FID free (physiological) amino acid kit) by gas chromatography (Focus GC AI 3000 Thermo Finnigan analyzer). The mean levels of essential amino acids (histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine) and non-essential amino acids (alanine, glycine, proline, and tyrosine) in amniotic fluid were found to be significantly higher in fetuses with gastroschisis than in the control group (P < 0.05). A significant positive correlation between maternal plasma and amniotic fluid concentrations of essential and nonessential amino acids was found only in the gastroschisis group (P < 0.05). The detection of significantly higher amino acid concentrations in the amniotic fluid of fetuses with a gastroschisis defect than in healthy fetuses suggests the occurrence of amino acid malabsorption or of amino acid leakage from the fetus into amniotic fluid.
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PMID:Elevated amniotic fluid amino acid levels in fetuses with gastroschisis. 1690 76

Investigation of the structure/function relationships of the sodium-glucose transporter (SGLT1) is crucial to understanding the cotransporter mechanism. In the present study, we used cysteine-scanning mutagenesis and chemical modification by methanethiosulfonate (MTS) derivatives to test whether predicted transmembrane IV participates in sugar binding. Five charged and polar residues (K139, Q142, T156, K157, and D161) and two glucose/galactose malabsorption missense mutations (I147 and S159) were replaced with cysteine. Mutants I147C, T156C, and K157C exhibited sufficient expression to be studied in detail using the two-electrode voltage-clamp method in Xenopus laevis oocytes and COS-7 cells. I147C was similar in function to wild-type and was not studied further. Mutation of lysine-157 to cysteine (K157C) causes loss of phloridzin and alpha-methyl-D-glucopyranoside (alphaMG) binding. These functions are restored by chemical modification with positively charged (2-aminoethyl) methanethiosulfonate hydrobromide (MTSEA). Mutation of threonine-156 to cysteine (T156C) reduces the affinity of alphaMG and phloridzin for T156C by approximately 5-fold and approximately 20-fold, respectively. In addition, phloridzin protects cysteine-156 in T156C from alkylation by MTSEA. Therefore, the presence of a positive charge or a polar residue at 157 and 156, respectively, affects sugar binding and sugar-induced Na(+) currents.
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PMID:Transmembrane IV of the high-affinity sodium-glucose cotransporter participates in sugar binding. 1844 29

Amino acids play numerous roles in the central nervous system, serving as neurotransmitters, neuromodulators and regulators of energy metabolism. The free amino acid profile in serum of Parkinson's disease (PD) patients may be influenced by neurodegeneration, mitochondrial dysfunction, malabsorption in the gastroenteric tract and received treatment. The aim of our study was the evaluation of the profile of amino acid concentrations against disease progression. We assessed the amino acid profile in the serum of 73 patients divided into groups with early PD, late PD with dyskinesia and late PD without dyskinesia. Serum amino acid analysis was performed by high-pressure liquid chromatography with fluorescence detection. We observed some significant differences amongst the groups with respect to concentrations of alanine, arginine, phenylalanine and threonine, although no significant differences were observed between patients with advanced PD with and without dyskinesia. We conclude that this specific amino acid profile could serve as biochemical marker of PD progression.
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PMID:Serum amino acid profile in patients with Parkinson's disease. 2937 59