Ectoine is an amino acid derivative and an important natural product in halophilic microorganisms. It plays an important role in protecting cells and stabilizing biological macromolecules, and can be widely used in biomedical fields such as drug preparation adjuvants, organ transplantation and preservation, skin wound repair and cosmetics. Due to the medical value and commercial market demand of ectoine, this article summarized the recent advances in the microbial production of ectoine, including the mutation and breeding of hyper-producing strains, construction of genetically and metabolically engineered strains, optimization of fermentation processes, and extraction and purification processes. The application of multi-omics technologies and computational biology to develop an ectoine producing cell factory was prospected, with the aim to provide a reference for ectoine overproduction.
Amino Acids, Diamino/metabolism* ; Fermentation

Cystinuria is an autosomal recessive disease characterized by impaired transport of cystine and dibasic amino acids in the proximal renal tubule, resulting in the formation of cystine stones. It is believed to account for about 1% of all kidney stones and up to 10% of pediatric stones. Here we report a case of cystinuria with multiple renal stones confirmed by genetic mutational analysis. An 8-month-old girl was admitted to AMC with persistent fever and multiple renal stones. A renal sonogram showed multiple stones at the right renal pelvis, right distal ureter, and left renal medullary portion. An approximately 1 cm renal stone was extracted spontaneously, and stone analysis revealed it to be composed entirely of cystine. Cystinuria was confirmed by increased urine dibasic amino acid levels, including cysteine, and genetic mutational analysis showed the patient to be a homozygote for the pathogenic c. 1820del (p.L607fs) of SLC3A1. Despite treatment with oral hydration and urinary alkalinization, and restricted intake of animal protein, the stones increased in size and number. The patient has since been treated with tiopronin.
Amino Acids, Diamino ; Animals ; Cysteine ; Cystine ; Cystinuria* ; Female* ; Fever ; Homozygote ; Humans ; Infant* ; Kidney Calculi ; Kidney Pelvis ; Kidney Tubules, Proximal ; Tiopronin ; Ureter ; Urolithiasis

Urinary tract calculi composed primarily of cystine are rare in adults and children. These are usually pure and found exclusively in patients with cystinuria. Cystinuria is an inherited defect in renal tubular reabsorption of four amino acids, cystine, ornithine, lysine, and arginine. Herein we report on a 2 and 1/12 years old male child with a right renal stone and multiple bladder stones composed primarily of cystine which were confirmed by X-ray diffraction method post-operatively.
Adult ; Amino Acids ; Arginine ; Calculi ; Child ; Cystine* ; Cystinuria ; Humans ; Lysine ; Male ; Ornithine ; Urinary Bladder Calculi ; Urinary Tract ; X-Ray Diffraction

Cystinuria is an autosomal recessive inherited defect in renal tubular reabsorption of four amino acids, cystine, ornithine, lysine and arginine. Homozygotes were identified by the formation of urinary tract calculi composed of cystine and by gross hyperexcretion of above mentioned four amino acids. Urinary tract calculi composed primarily of cystine are rare in adults and children. These are usually pure and found exclusively in patients with cystinuria. Herein we report on a 4 and 3/12 years old male child with a right renal stone composed primarily of cystine which was confirmed by chemical analysis method postoperatively. After discharge he has been treated with D-penicillamine, large fluid intake and conversion of urine pH.
Adult ; Amino Acids ; Arginine ; Calculi ; Child* ; Cystine* ; Cystinuria ; Homozygote ; Humans ; Hydrogen-Ion Concentration ; Lysine ; Male ; Ornithine ; Penicillamine ; Urinary Tract

Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Mutational studies were performed by direct sequencing. Two of the 8 were male and 6 were female. The median ages at onset and diagnosis were 1.5 (range, 0.3–13.6) and 2.6 (range, 0.7–16.7) years, respectively. The median followed up was 7.7 (range, 3.4–14.0) years. Mutational analyses were performed in 7 patients and revealed biallelic SLC3A1 mutations (AA genotype) in 4 patients, a single heterozygous SLC3A1 mutation (A- genotype) in 1 patient, biallelic SLC7A9 mutations (BB genotype) in 1 patient, and a single heterozygous SLC7A9 mutation (B- genotype) in 1 patient. Two of the mutations were novel. No genotype-phenotype correlations were observed, except for earlier onset age in patients with non-AA genotypes than in patients with the AA genotype. All patients suffered from recurrent attacks of symptomatic nephrolithiasis, which lead to urologic interventions. At the last follow-up, 3 patients had a mild-to-moderate degree of renal dysfunction. This is the first study of genotypic and phenotypic analyses of patients with cystinuria in Korea.
Age of Onset ; Amino Acids, Diamino ; Child ; Chungcheongnam-do ; Cystine ; Cystinuria* ; Diagnosis ; Female ; Follow-Up Studies ; Genetic Association Studies ; Genotype* ; Humans ; Korea ; Male ; Nephrolithiasis ; Phenotype* ; Renal Reabsorption ; Retrospective Studies ; Seoul

BACKGROUND/AIMS: Amino acids have many physiological activities. We report the correlation between gastric emptying and gastric adaptive relaxation using tryptophan and amino acids with a straight alkyl chain, hydroxylated chain, and branched chain. Here we sought to further clarify the correlation between gastric emptying and gastric adaptive relaxation by using other amino acids. METHODS: In Sprague-Dawley rats, gastric emptying was evaluated by a breath test using [1-¹³C] acetic acid. The expired ¹³CO₂ pattern, T(max), C(max), and AUC(120min) values were used as evaluation items. Gastric adaptive relaxation was evaluated in a barostat experiment. Individual amino acids (1 g/kg) were administered orally 30 minutes before each breath test or barostat test. RESULTS: L-phenylalanine and L-tyrosine did not influence gastric emptying. All other amino acids, ie, L-proline, L-histidine, L-cysteine, L-methionine, L-aspartic acid, L-glutamic acid, L-asparagine, L-arginine, L-glutamine, and L-lysine significantly delayed and inhibited gastric emptying. L-Cysteine and L-aspartic acid significantly enhanced and L-methionine and L-glutamine significantly inhibited gastric adaptive relaxation. L-Phenylalanine moved the balloon toward the antrum, suggesting strong contraction of the fundus. T(max) showed a significant positive correlation (r = 0.709), and C(max) and AUC(120min) each showed negative correlations (r = 0.613 and 0.667, respectively) with gastric adaptive relaxation. CONCLUSION: From the above findings, it was found that a close correlation exists between gastric emptying and adaptive relaxation, suggesting that enhanced gastric adaptive relaxation inhibits gastric emptying.
Acetic Acid ; Amino Acids* ; Animals ; Arginine ; Asparagine ; Aspartic Acid ; Breath Tests ; Cysteine ; Gastric Emptying* ; Glutamic Acid ; Glutamine ; Histidine ; Lysine ; Methionine ; Phenylalanine ; Proline ; Rats ; Rats, Sprague-Dawley ; Relaxation* ; Tryptophan ; Tyrosine

Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by: 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include: ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.
Brain ; Child ; Cystathionine ; Cystine ; Ectopia Lentis* ; Female ; Homocystine ; Homocystinuria* ; Humans ; Incidence ; Intellectual Disability ; Liver ; Metabolism ; Methionine ; Plasma ; Thromboembolism

OBJECTIVETo develop an HILIC method for determination of dencichine in Sanqi tablet and evaluate the quality of Sanqi tablet of different hatches from various manufactures in the market.

METHODThe chromatographic separation was conducted on a Thermo HILIC column (4.6 mm x 250 mm, 5 microm) kept at 25 degrees C with acetonitrile and 0.1% H3PO4 (60:40) as the mobile phase. The flow rate was set at 1 mL x min(-1) and the detection wavelength was set at 213 nm.

RESULTThe contents of dencichine in Sanqi tablet ranged from 1.60 to 4.31 mg x g(-1).

CONCLUSIONThe well established method was successfully applied to determine dencichine in Sanqi tablet. The results demonstrated that this method was simple, accurate and could be applied for quality control of Sanqi as well as its associated preparations.

OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of this enzyme may lead to Reye syndrome like picture such as encephalopathy, hepatic dysfunction, hyperammonemia, etc. We recently had a case that was presented as recurrent Reye syndrome, and was effectively treated with hemodialysis, arginine, sodium benzoate, etc. This report describes an experience in treating this condition with review of available literature.
Arginine ; Carbamyl Phosphate ; Citrulline ; Hepatic Encephalopathy ; Hyperammonemia ; Ornithine Carbamoyltransferase Deficiency Disease ; Ornithine Carbamoyltransferase* ; Ornithine* ; Renal Dialysis ; Reye Syndrome ; Sodium Benzoate ; Urea

To build a reversed phase ion-pair chromatography to determination content of Dencichine from Panax notoginseng. Using Tetrabutyl ammonium hydroxide ions by the combination of reagent and HPLC method without derivatization to test the content of dencichine directly. The optimum conditions of supersonic extraction were solid-to-liquid ratio 1: 20, Continuous ultrasonic extraction: twice, each time 15 minutes; 3,500 r · min⁻¹, then centrifuging 15 minutes. Dencichine in different age, place, part and the different Processing mode were examined. The method is simple with sound separation degree and stability, which can facilitate the determination of dencichine content directly and provide the basis in quality standard of raw material.
Amino Acids, Diamino ; analysis ; Chromatography, Reverse-Phase ; methods ; Drugs, Chinese Herbal ; analysis ; Panax notoginseng ; chemistry ; Plant Roots ; chemistry